ipopi a survey of canadian patients with primary ... shift 2.pdf · e. carne, g. rasul, c. price...
TRANSCRIPT
Shift 2: Friday 26 October from 07:30 until Saturday 27 October, 13:45
Posters can be mounted from 07:00 on Friday 26 October and must be removed by the end of sessions (14:00) on
Saturday 27th.
IPOPI
Poster Board Number
A SURVEY OF CANADIAN PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASE W. Goulstone, E. Tough (Canada)
001
PID GENIUS: A MOBILE APPLICATION BY PATIENTS FOR PATIENTS. PERSONAL ASSISTANT FOR PATIENTS WITH A PRIMARY IMMUNODEFICIENCY M. Pergent, L. Solis, J. Prevot, S. Kiema (France)
002
PRIMARY IMMUNODEFICIENCY (PI): CHRONIC AND RARE DISEASE BETWEEN DISTRESS AND RESILIENCE. A CASE REPORT A. Trizzino, S. Battiato, A. Trizzino, C. Mosa, E. Sanfratello, C. Taormina, P. D'Angelo (Italy)
003
INGID
Poster Board Number
DEVELOPING A MODEL FOR IMMUNOLOGY RESEARCH SUPPORT E. Carne, G. Rasul, C. Price (United Kingdom)
004
TRANSITIONING FROM IVIG TO SCIG: A PRIMARY IMMUNODEFICIENCY (PID) PATIENT’S PERSPECTIVE C. Collins, R. Dring, T. Allen, C. Slade, J.A. Douglass (Australia)
005
A MULTI-CENTRE QUALITATIVE STUDY TO EXPLORE EXPERIENCES OF INDIVIDUALS LIVING WITH SECONDARY IMMUNODEFICIENCY WHO RECEIVE SUBCUTANEOUS IMMUNOGLOBULIN THERPAY K. Henderson (United Kingdom)
006
IV IG REACTIONS IN 47 PATIENTS OF PRIMARY IMMUNODEFICIENCY Z. Poursheikhi (Iran)
007
BEST TREATMENT FOR AN AUTISITIC PATIENT TRANSITIONING TO ADULT SERVICES G. Rasul, E. Carne (United Kingdom)
008
INTEGRATED CARE PROGRAM FOR CHILDREN WITH PRIMARY IMMUNODEFICIENCY. THE “I'M NOT ALONE" PROJECT S. Ridao Manonellas, A. Fábregas Bofill, M. García Prat, J.G. Rivière, A. Martín-Nalda, P. Soler-Palacín (Spain)
009
EXPERIENCE IN SWITCHING TO REPLACEMENT WITH FACILITATED SUBCUTANEOUS IMMUNOGLOBULINS IN A TERTIARY HOSPITAL FROM CANTABRIA (NORTHERN SPAIN) C. Salcedo, B. Mallagaray Saavedra, J.G. Ocejo-Vinyals, M. López Hoyos (Spain)
010
NURSING-CARE IN PRIMARY IMMUNODEFICIENCIES DURING TRANSITIONAL CARE: AN AUDIT ABOUT THE PATIENTS’ EXPERIENCE M. Tabini, D. Bellotta, S. Orlando, G. Fabio, M. Carrabba (Italy)
011
REPLACEMENT THERAPY WITH SUBCUTANEOUS IMMUNOGLOBULINS: THE NEEDING OF A PERIODIC RE-TRAINING TO THERAPY M. Tabini, D. Bellotta, S. Orlando, G. Fabio, M. Carrabba (Italy)
012
PREVALENCE AND IMPACT OF FATIGUE IN PEDIATRIC PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISORDERS (FATPID STUDY): A QUANTITATIVE SINGLE CENTER PILOT STUDY E. Visser, L. Van der Knaap, K. Stol, A. Van Rossum, P. Fraaij, C. Vermont (The Netherlands)
013
IMPACT OF FSCIG REPLACEMENT THERAPY IN PATIENTS’ DAILY LIFE E. Zaimaki, P. Giannakopoulou, S. Tantou, A.M. Tsilia, M. Tzanoudaki, M. Kanariou (Greece)
014
AUTOINFLAMMATORY DISORDERS
Poster Board Number
CNV ANALYSIS FROM TARGETED NGS DATA: CASE REPORT ON A PATIENT WITH A LARGE DELETION IN THE NLRP12 GENE B. Bangol, K. Starz, M. Ziegler, D. Becker, J. Schiller, S. Eilitz, H.G. Klein (Germany)
015
BIALLELIC MUTATIONS IN HOIP PRESENTING WITH COMBINED AUTOINFLAMMATION AND IMMUNODEFICIENCY H. Oda, D. Beck, H. Kuehn, L. Notarangelo, S. Rosenzweig, D. Kastner, I. Aksentijevich (USA)
016
ISG15 DEFICIENCY PRESENTING WITH AUTOINFLAMMATORY SYMPTOMS INVOLVING BRAIN AND SKIN M. Bravo, S. Murias, M. Feito, Y. Bravo, M. Bret, R. De Lucas, A. Remesal, R. Rodríguez-Pena, E. López-Granados (Spain)
017
NEW DIAGNOSIS OF PAAND IN A PATIENT WITH DERMATOLOGICAL, JOINT AND SKELETAL MUSCLE AND GASTROINTESTINAL AUTOINFLAMMATION. J.L. Valdivieso Shephard, C. Plasencia, L.Y. Bravo Gallego, A. Colmenero Velázquez, C. Gianelli, R. Rodríguez Pena, E. López Granados, M. Bravo García-Morato (Spain)
018
DISTINCT CEREBROVASCULAR FEATURES IN PATIENTS WITH ADA2 DEFICIENCY R. Caorsi, M.S. Severino, C. Gandolfo, A. Ravelli, A. Rossi, M. Gattorno (Italy)
019
MAGIC SYNDROME (MOUTH AND GENITAL ULCERS WITH INFLAMED CARTILAGE) ASSOCIATED WITH G6PD DEFICIENCY IN AN ALGERIAN PATIENT. G. Chalhoub (France)
020
AUTOINFLAMMATION CAUSED BY NFAT5 DEFICIENCY. N.V. Kirk, M. Bernth Jensen, M.S. Petersen, C.S. Larsen, M. Christiansen (Denmark)
021
VERY EARLY ONSET PSORIASIS: WHICH GENES CAN WE FOUND? A.I. Cordeiro, M.J. Paiva Lopes, C. Neves, J. Farela Neves (Portugal)
022
A NOVEL LRBA MUTATION PRESENTS WITH NORMAL CTLA-4 AND OVERACTIVE TH17 IMMUNITY M. De Bruyne, D.J. Bogaert, K. Venken, L. Van den Bossche, C. Bonroy, L. Roels, S.J. Tavernier, E. Van de Vijver, A. Driessen, M. Van Gijn, L. Gámez-Diaz, D. Elewaut, B. Grimbacher, N. Moes, M. Dullaers, F. Haerynck (Belgium)
023
DEFICIENCY OF IL-1 RECEPTOR ANTAGONIST COULD HAVE DIFFERENT THAN CLASSIC PHENOTYPE D. El-Ghoneimy (Egypt)
024
GENERALIZED PUSTULAR PSORIASIS IN A CHILD: THINK TO DITRA? F.Z. Elfatoiki, R. Razanapinaritra, I. Benhsain, F. Ailal, A. Bousfiha, H. Fouzia, S. Chiheb (Morocco)
025
NH1N1 INFLUENZA AND RISK OF BACTERIAL CO INFECTIONS AMONG ACUTELY IMMUNOCOMPROMISED CHILDREN. A. Fatima, S.S.A. Zaidi (Pakistan)
026
CLINICAL STUDY OF JAPANESE PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER: POSSIBLE ROLES OF MUTATIONS IN OTHER AUTOINFLAMMATORY SYNDROME RELATED GENES K. Fujimoto, Y. Hidaka, Y. Yoshida, M. Hayashi, S. Sugi, T. Koga, S. Kaieda, S. Yamasaki, H. Tomoaki, H. Ida (Japan)
027
SUCCESSFUL TREATMENT WITH ETANERCEPT OF AN ADOLESCENT WITH SUSPECTED TUMOUR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME ACCOMPANIED WITH INCREASED SERUM IGD A. Gagro, A.M. Pasini (Croatia)
028
IDENTIFICATION OF A NOVEL MUTATION IN EXON 5 OF NLRP3 GENE IN A PATIENT WITH SUSPECTED CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME E. Garcia, M. Di Natale, J. Gil Herrera, J. Carbone Campoverde, C. Rodríguez Sainz, E. Fernández-Cruz Pérez (Spain)
029
EARLY ONSET TRNT1 DEFICIENCY (SIFD) MAY IMPROVE AFTER ADOLESCENCE E. Hernández Brito, S. De la Iglesia, F. Fernández-Fuertes, E. Colino, C. Acosta-Fleitas, J.I. Aróstegui, C. Rodríguez-Gallego (Spain)
030
THREE-YEAR CLINICAL FOLLOW-UP OF A PATIENT WITH AICARDI-GOUTIÈRES SYNDROME CAUSED BY TREX1 MUTATION S. Huljev Frkovic, M. Frkovic, M. Jelusic (Croatia)
031
FAMILIAL MEDITERRANEAN FEVER IN SLOVAKIA – NOT SO RARE DISEASE AS EXPECTED - EXPERIENCE OF NATIONAL CENTER FOR PERIODIC FEVER SYNDROMES M. Jesenak, K. Hrubiskova, L. Kapustova, P. Banovcin (Slovak Republic)
032
MEVALONATE KINASE DEFICIENCY/ HYPER-IGD SYNDROME IN SLOVAKIA (ONE CENTRE EXPERIENCE) L. Kapustova, M. Jeseňák, M. Škereňová, M. Kostková, P. Bánovčin (Slovak Republic)
033
COMPOUD HETEROZYGOUS PSTPIP1 MUTATION IN AUTOSOMAL DOMINANT PAMI SYNDROME A. Kruchen, S. Maier, R. Grosse, L. Froh, D. Holzinger, U. Zur Stadt, K. Lehmberg, I. Müller (Germany)
034
ADA2 DEFICIENCY PRESENTING AS POLYCLONAL LYMPHOPROLIFERATION AND LATE ONSET REFRACTORY PURE RED CELL APLASIA T. Le Voyer, D. Boutboul, G. Boursier, C. Fieschi, S. Georgin-Lavialle, S. Latour, G. Le Guenno (France)
035
PROLIDASE DEFICIENCY MIMICKING SJIA WITH LUNG INVOLVEMENT PARTIALLY RESPONDING TO JAK1/2 TREATMENT A.L. Lemarquis, J.A. Gudmundsdottir, G.B. Johannesdottir, V. Sula, B.R. Ludviksson, A. Fisher, A. Haraldsson (Iceland)
036
DIFFUSE CUTANEOUS VASCULITIS AS THE FIRST MANIFESTATION OF IL7-RA DEFICIENCY IN BRAZIL L. Mendonca, D. Tadeu Gomes Carvalho, F.J. Almeida, E. Naaman Berezin, M.A. Palazzi Sáfadi, S. Brasilia Sacchetti, A. Guariento, F. Caroli, A. Grossi, M. Gattorno, I. Ceccherini (Italy)
037
NOVEL MUTATION AFFECTING MEFV GENE (P.Q440X) ASSOCIATED WITH SEVERE REFRACTORY PYRIN-ASSOCIATED AUTOINFLAMMATION WITH NEUTROPHILIC DERMATOSIS (PAAND) SYNDROME: WHERE IS THE NONSENSE MEDIATED DECAY? L. Mendonca, F. Caroli, A. Grossi, M. Gattorno, I. Ceccherini (Italy)
038
HIDRADENITIS SUPPURATIVA IN KERATITIS-ICHTHYOSIS-DEAFNESS (KID) SYNDROME: CASE REPORT OF THE FIRST GENETIC IDENTIFIED CASE IN BRAZIL AND GENOTYPE VERSUS PHENOTYPE LITERATURE REVIEW L. Mendonca, F. Caroli, M. Gattorno, S. Pereira, E. Paula Silveira Lacerda, M. Ianhez, I. Ceccherini (Italy)
039
HOMOZYGOUS NLCR4 P.A160T ASSOCIATED WITH ENTEROCOLITIS AND IMMUNE DYSREGULATION SYNDROME L. Mendonca, F. Caroli, A. Grossi, A. Pontillo, M. Toledo Barros, I. Ceccherini, M. Gattorno (Italy)
040
AIP-1 DEFICIENCY DUE TO A NOVEL HOMOZYGOUS WDR1 MUTATION IN A CHILD WITH RECURRENT INFECTIONS, SEVERE NEUTROPHIL DYSFUNCTION, THROMBOCYTOPENIA AND RECURRENT INFLAMMATORY MANIFESTATIONS A. Mensa-Vilaró, E. Iglesias, A. Vlagea, M. Solís-Moruno, J.M. Mosquera, V. Bittermann, J. Calzada, L. Alsina, A. Deyà, R. Lara, S. Plaza, H. Martínez-Banaclocha, M. Juan, J. Yagüe, F. Casals, C. Fortuny, A. Vicente, J. Anton, P. Pelegrín, J.I. Aróstegui (Spain)
041
A CASE REPORT OF BIALLELIC MUTATIONS IN PRF1 CAUSING FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 2 (FHL2) WITH PREDOMINANTLY NEUROLOGICAL SYMPTOMS L. Merz, M. Hannibal, M. Vander Lugt, K. Payal, K. Walkovich (USA)
042
QUANTITATIVE EVALUATION OF MRNA EXPRESSION OF MEFV GENE PRODUCT PYRIN IN HUMAN TISSUES N. Nakano, N. Kaneko, M. Kurata, T. Yamamoto, E. Ishii, K. Agematsu, A. Yachie, K. Mitiga, K.I. Yoshiura, T. Urano, T. Koga, A. Kawakami, J. Masumoto (Japan)
043
A CRUCIAL ROLE FOR WISKOTT ALDRICH SYNDROME PROTEIN IN AUTOPHAGY AND INFLAMMASOME ACTIVITY IN INNATE IMMUNE CELLS L. Rivers, P. Lee, D. Lobarto-Marquez, N. Pramanik, A. Sirianni, V. Daza-Cajigal, A. Cavazza, G. Bouma, D. Moulding, K. Hultenby, L. Westerberg, M. Hollinshead, Y.L. Lau, S. Burns, S. Mostowy, M. Bajaj-Elliott, A.J. Thrasher (United Kingdom)
044
DOUBLE LOW-PENETRANCE HETEROZYGOUS MUTATIONS IN NLRP3 AND TNFRSF1A GENES IN A PATIENT WITH A PERIODIC FEVER SYNDROME: CAPS OR TRAPS? C. Rodriguez-Sainz, E. Seoane Reula, E. García Martínez, M. Di Natale, S. Padure, M.A. Mejía González, J. Gil Herrera, J. Carbone Campoverde, E. Fernández-Cruz (Spain)
045
DIFFUSE CUTANEOUS MASTOCYTOSIS IN A TEN-MONTH OLD BOY AT THE HOSPITAL UNIVERSITARIO DE NEIVA, COLOMBIA D.M. Salgado, M.R. Vega, J.L. Sanchez, J.A. Rodriguez (Colombia)
046
A MUTATION OUTSIDE THE DIMERIZATION DOMAIN CAUSING ATYPICAL STING-ASSOCIATED VASCULOPATHY IN INFANCY R. Saldanha, K. Balka, F. Moghaddas, S. Davidson, D. De Nardo, B. Wainstein, M. Wong, S. Masters, P. Gray (Australia)
047
CHRONIC NON-BACTERIAL OSTEOMYELITIS : CASE SERIES AND LITERATURE REVIEW V. Selmanovic, A. Omercahi-Dizdarevic, A. Cengic, I. Sefic-Pasic, M. Bukvic (Bosnia - Herzegovina)
048
MUTATION IN NLRP12, AS CAUSE OF PERIODIC FEVER SYNDROME A.G. Seminario, I. Moreira, M.S. Caldirola, L. Regairaz, M.I. Gaillard, J. Chou, R. Geha, L. Bezrodnik (Argentina)
049
DISEASE-ASSOCIATED MONOCYTE/MACROPHAGE SPECIFIC CYTOKINE SECRETION PATTERNS IN FMF PATIENTS T. Shiba, T. Tanaka, H. Shibata, K. Izawa, T. Yasumi, R. Nishikomori, M. Saito, H. Ida, T. Heike (Japan)
050
FAMILIAL MEDITERRANEAN FEVER AND MUCKLE-WELLS OVERLAP SYNDROME – CASE REPORT F. Vale, I. Casella, B. Ascensão, T. Azevedo, N. Luis, A.C. Gonçalves, V. Laerte, A.P. Brito, J. Sá, J. Poças (Portugal)
051
INNATE IMMUNITY
Poster Board Number
INHERITED P40PHOX DEFICIENCY CONFER A NON-CLASSIC CHRONIC GRANULOMATOUS DISEASE WITH DISSEMINATED HISTOPLASMOSIS IN A COLOMBIAN CHILD PATIENT C. Arango-Franco, A. Nieto-Patlan, M. Moncada-Velez, J. Alvarez, C. Oleaga-Quinta, C. Deswarte, F. Cabarcas, C. Garces, J. Orrego, J. Alzate, J.L. Casanova, J. Bustamante, J. Franco, A. Arias (Colombia)
053
EXOME SEQUENCING REVEALS KNOWN AND NOVEL MUTATIONS IN CYBA AND CYBB THAT CONFER CHRONIC GRANULOMATOUS DISEASE (CGD) IN COLOMBIAN PATIENTS M. Molina, D. Arboleda, J. Alzate, F. Cabarcas, C. Olmos, M. Alvarez, J. Orrego, J. Lopez, M. Olaya, M. Moncada, J. Franco, A. Arias (Colombia)
054
ANTI-N-METHYL-D-ASPARTATE RECEPTOR ENCEPHALITIS ASSOCIATED WITH IRAK4 DEFICIENCY T. Asano, S. Nishimura, Y. Kobayashi, M. Tsumura, N. Ishikawa, H. Ohnishi, H. Takada, V. Sancho-Shimizu, K. Moriya, A. Puel, C. Picard, S.R. Irani, J.L. Casanova, S. Okada, M. Kobayashi (Japan)
055
IDENTIFICATION OF NOVEL MUTATIONS IN GENES INVOLVED IN INNATE IMMUNITY IN PATIENTS WITH AUTOIMMUNE ADDISON’S DISEASE S. Aslaksen, A.B. Wolff, E.S. Husebye, E. Bratland (Norway)
056
CHRONIC GRANULAMATOUS DISEASE: THE PROGNOSTIC EFFECT OF MOLECULAR PATHOLOGIES E. Azarsiz, N. Karaca, G. Aksu, N. Kutukculer (Turkey)
057
INTRACELLULAR STAINING OF SUBUNITS OF NADPH OXIDASE ENZYME PREDICTS DEFECTIVE GENE IN PATIENTS WITH CHRONIC GRANULOMATOUS DISEASE E. Baris, I. Ogulur, B. Akcam, D. Baser, A. Kiykim, N. Kasap, Y. Koker, B. Saraymen, G. Yesil, A. Ozen, E. Karakoc-Aydiner, S. Baris (Turkey)
058
MOTHERS OF AUTOSOMAL RECESSIVE CHRONIC GRANULOMATOUS DISEASE PATIENTS DO NOT SHOW AUTOIMMUNE FINDINGS IN CONTRAST TO X-LINKED PATIENTS E. Baris, A. Kiykim, E. Nain, G. Akgun, I. Ogulur, D. Baser, Y. Koker, B. Saraymen, G. Yesil, A. Ozen, S. Baris, E. Karakoc-Aydiner (Turkey)
059
HEMOPHAGOCYTIC SYNDROME IN A CHILD WITH MYCOBACTERIA INFECTION J. Barroso Santos, M.A. Yamazaki Nakashimada, S.E. Espinosa Padilla, L. Blancas-Galicia, E. Venegas Montoya, J.C. Bustamante, M. Espinosa (Mexico)
060
DEFECTS OF THE INTERLEUKIN-12/ INTERFERON-GAMMA AXIS: MENDELIAN PREDISPOSITION TO MYCOBACTERIAL DISEASE IN A CHILD. CASE REPORT J. Barroso Santos, B. Quiroz Viveros, O.J. Saucedo Ramirez, M.A. Yamazaki Nakashimada, S.E. Espinosa Padilla, M.I. Espinosa Navarro, L. Blancas Galicia (Mexico)
061
CHRONIC MUCOCUTANEOUS CANDIDIASIS ABOUT 11 CASES I. Benhsaien, F. Ailal, A. Puel, J.L. Casanova, A.A. Bousfiha (Morocco)
062
CLINICAL MANIFESTATIONS OF CHRONIC GRANULOMATOUS DISEASE ABOUT 27 CASES. I. Benhsaien, F. Ailal, J. Najib, A.A. Bousfiha (Morocco)
063
PROFILE OF FUNGAL INFECTIONS IN CHILDREN WITH CHRONIC GRANULOMATOUS DISEASE (CGD) AT CHANDIGARH, NORTH INDIA D. Bhattarai, P. Vignesh, H. Kaur, S.M. Rudramurthy, A. Chakrabarti, A. Rawat, S. Singh (India)
064
FOLLOW UP OF A PATIENT WITH A LEUKOCYTES ADHESION DEFICIENCY TYPE 1 DURING 17 YEARS O. Boyarchuk, L. Volyanska, E. Burbela, L. Dmytrash (Ukraine)
065
AUTOSOMAL RECESSIVE CHRONIC GRANULOMATOUS DISEASE IN A SPANISH COHORT L.Y. Bravo Gallego, J.L. Valdivieso Shepard, A. Colmenero Velázquez, R. Pérez de Diego, A. López Lera, A. Martínez-Feito, C. Gianelli, R. Rodríguez Pena, E. López Granados, M. Bravo García-Morato, A. Ferreira Cerdán (Spain)
066
X-LINKED CHRONIC GRANULOMATOUS DISEASE AND MCLEOD PHENOTYPE. A. Colmenero Velázquez, L.Y. Bravo Gallego, M. Bravo García-Morato, A. Viejo Llorente, A. Méndez Echevarría, J. Valdivieso Shephard, C. Gianelli, A. Ferreira Cerdán, E. López Granados, R. Rodríguez Pena (Spain)
067
WHOLE EXOME SEQUENCING OF PATIENTS WITH PARALYTIC POLIO MYELITIS IDENTIFIES NOVEL RARE VARIANTS IN GENES ASSOCIATED WITH/ENCODING MOLECULES/PROTEINS OF INNATE IMMUNE DEFENSES (AND BEYOND) N.S. Brinck Andersen, S. Müller Larsen, S. Konstantin Nissen, P. Höllsberg, T. Vorup-Jensen, T. Hyrup Mogensen (Denmark)
068
INVESTIGATING THE ROLE OF RNA POLYMERASE III PRIMARY IMMUNODEFICIENY IN IDENTICAL TWINS WITH VARICELLA ZOSTER CENTRAL NERVOUS SYSTEM VASCULITIS
069
M. Carter-Timofte, A. Hansen, M. Mardahl, S. Fribourg, F. Rapaport, S.Y. Zhang, J.L. Casanova, S.R. Paludan, M. Christiansen, C.S. Larsen, T.H. Mogensen (Denmark)
CLINICAL, IMMUNOLOGICAL AND MOLECULAR SPECTRUM OF MSMD PATIENTS WITH IL12RΒ1 DEFICIENCY FROM INDIA. A. Dalvi, M. Gupta, J. Aluri, P. Taur, M. Desai, H. Prasad, I. Ck, S. Bhat, M. Madkaikar (India)
070
POTENTIAL ROLE OF NATURAL KILLER CELLS IN LRBA DEFICIENCY S. Cinar, M.Y. Gelmez, N. Akdeniz, G. Ozcit, A. Kiykim, A.O. Ozen, S. Baris, E. Karakoc Aydiner, G. Deniz (Turkey)
071
MOLECULAR MECHANISMS OF SEVERE CONGENITAL NEUTROPENIA (SCN) ASSOCIATED WITH DEFICIENCIES IN VACUOLAR PROTEIN SORTING 45 HOMOLOG (VPS45) L. Frey, N. Zietara, M. Lyszkiewicz, Y. Liu, J. Puchalka, F. Giesert, W. Wurst, M. Dahlhoff, E. Wolf, R. Somech, C. Klein (Germany)
072
VERY EARLY-ONSET INFLAMMATORY MANIFESTATIONS OF CHRONIC GRANULOMATOUS DISEASE N. Guirat, R. Kouki, M. Ouederni, M. Ben Khaled, F. Mellouli, M. Bejaoui (Tunisia)
073
AUTOIMMUNITY AND TOLERANCE DEFECTS IN TWO BOYS WITH TLR7 MUTATIONS A. Hayward, C. Cunningham-Rundles, E. Meffre (USA)
074
INTERLEUKIN 12 RECEPTOR BETA 1 DEFICIENCY: SINGLE CENTER EXPERIENCE Ö. Kaba, M. Kara, S. Hancerli Torun, A. Somer, N. Salman (Turkey)
075
CASE SERIES OF WISCOTT ALDRICH SYNDROME F. Karbasian, D. Babaie, M. Keramatipour, M. Mesdaghi, B.S. Shamsian, Z. Daneshmandi, M. Saberi, A. Karamzade, Z. Chavoshzadeh (Iran)
076
HEREDITARY ANGIOEDEMA IN CHILDREN: A CLINICAL EXPERIENCE OVER 20 YEARS FROM NORTH WEST INDIA A. Kaur, A. Rawat, D. Sharma, A. Jindal, R. Garg, D. Suri, A. Gupta, I. Panigrahi, S. Dogra, B. Saikia, R. Minz, S. Singh (India)
077
CAN A SELF-EATING DISORDER PREDISPOSE TO PARALYTIC POLIOMYELITIS? S.M. Larsen, N.S.B. Andersen, S.K. Nissen, M. Mardahl, T.H. Mogensen (Denmark)
078
CLINICAL, IMMUNOLOGICAL, AND CELLULAR PHENOTYPES OF 19 PATIENTS FROM 14 KINDREDS WITH AUTOSOMAL RECESSIVE STAT1 DEFICIENCY T. Le Voyer, J.J. Valentine, S. Sakata, S. Nishimura, E.S. Ana, S. Anna, A.S. Bandar, E.G. Hatice, T. Prasad, C. Mette, A. Mohammed, A. Peter D, B. Raffaele, A. Laia, D. Mukesh, B.D. Stephanie, A.M. Hamoud, O. Satoshi, C. Jean-Laurent (France)
079
TH1 AND TH17 HOST IMMUNITY AGAINST TALAROMYCES MARNEFFEI - INSIGHTS FROM MONOGENIC IMMUNODEFICIENCY SYNDROMES P. Lee, M. Lao-araya, J. Yang, K.W. Chan, W. Yang, M. Trakultivakorn, Y.L. Lau (Hong Kong S.A.R.)
080
NADPH OXIDASE 2 DERIVED REACTIVE OXYGEN SPECIES PROMOTE CD8+ T CELL EFFECTOR FUNCTION C. Liu, A. Chernatynskaya, B. Newby, J. Chen, T. Brusko, Y. Xu, N. Morgan, W. Reeves, H. Tse, J. Leiding, C. Mathews (USA)
081
SERUM MYELOPEROXIDASE AND ELASTASE LEVELS IN PATIENTS WITH HEREDITARY ANGIOEDEMA J. Litzman, R. Hakl, P. Bejdak, M. Litzman, M. Vlkova (Czech Republic)
082
CHRONIC GRANULOMATOUS DISEASE IN PORTUGAL 2018 – A MULTICENTER STUDY M. Coelho, M. Guedes, J.G. Marques, S.L. Silva, J. Neves, S. Lemos, F. Regateiro, E. Faria, B. Vitor, E. Neves, J. Vasconcelos, L. Marques (Portugal)
083
GATA-2 DEFICIENCY: EXTENDING THE SPECTRUM OF THE DISEASE WITH A REPORT OF PATIENTS FROM A DERMATOLOGICAL AMBULATORY OF PRIMARY IMMUNODEFICIENCIES D. Moraes Vasconcelos, D.L. Bertolini-, M. Domingues Ferreira, N. Chuffi-Barros, I. Bendit, E. Velloso, L. Silva, A. Duarte (Brazil)
084
CELL-FREE DNA-PRETREATMENT OF MICE WITH DSS-COLITIS EXERTS HOST-PROTECTIVE EFFECT VIA AUTOPHAGY AND TLR9-SIGNALING F. Sipos, A. L. Kiss, G. Műzes (Hungary)
085
DEFICIENCY OF GATA-2 AN ENTITY OF MULTIPLES PHENOTYPES. CLINICAL CASE P. O Farrill, L. Berron, N. Segura, G. Lopez, D. Herrera (Mexico)
086
AUTOIMMUNITY IN ADULT PATIENTS WITH CHRONIC MUCOCUTANEOUS CANDIDIASIS GOF MUTATION IN STAT 1 P. O Farrill, M. Hernández Ojeda, L. Blancas Galicia, A. Puel, N.H. Segura Méndez (Mexico)
087
A NOVEL FORM OF PARTIAL RECESSIVE IFN-GAMMA RECEPTOR 2 DEFICIENCY CAUSED BY MUTATIONS OF THE INITIATION AND SECOND CODON C. Oleaga, C. Deswarte, A. Metin, I. Chikkanayakanahalli, S. Kınık Yüksek, A. Nieto-Patlán, A. Guérin, B. Gülhan, S. Murthy, A. Özkaya Parlakay, R. Martínez-Barricarte, L. Abel, S. Boisson-Dupuis, M. Moncada-Vélez, X.F. Kong, J.L. Casanova, J. Bustamante (France)
088
GENETIC, IMMUNOLOGICAL AND CLINICAL FEATURES OF PATIENTS WITH MYCOBACTERIAL INFECTIONS DUE TO INHERITED GATA2 DEFICIENCY C. Oleaga, E.B. De Oliveira-Júnior, J. Rosain, L. Branco, A.A. Arias, M. Guedes, R.A. Campos, G. Lopez-Herrera, P. O’Farrill Romanillos, L.F. Jobim, M. Pasquet, J. Franco Restrepo, F.O. Ardeniz, C. Rodriguez Gallego, J. Vasconcelos, C. Fieschi, M. Martinez-Gallo, J.L. Casanova, J. Bustamante (France)
089
SEVERE CONGENITAL NEUTROPENIA: CLINICAL MANIFESTATIONS AND OUTCOME M. Ouederni, S. Jouhari, M. Ben Khaled, S. Rekaya, R. Kouki, N. Dhouib, F. Mellouli, M. Bejaoui (Tunisia)
090
UNUSUAL BUT TYPICAL FOR COMMON VARIABLE IMMUNODEFICIENCY (CVID) INFECTIONS - CASE REPORT A. Lewandowicz-Uszyńska, G. Pasternak, A. Kuraszewicz (Poland)
091
FAMILIAL PULMONARY ALVEOLAR PROTEINOSIS CAUSED BY MUTATION IN CSF2RA: CASE REPORT L. Perez, M. Nieto, M. Griese, A. Schieber, F. Romagnoli, H. Botto (Argentina)
092
ALPHA3 INTEGRIN DEFICIENCY IS ASSOCIATED WITH ABNORMAL CHEMOTAXIS AND IMMUNODEFICIENCY M. Pinelli, F. Todaro, D. De Rose, D. Moratto, R. Badolato, G. Zuin, S. Sozzani, L. Larizza (Italy)
093
MYD88 DEFICIENCY IN A PATIENT WITH DELAYED UMBILICAL CORD SEPARATION AND BCG ADENITIS CAUSED BY A NOVEL TRUNCATION MUTATION C. Platt, M. Seleman, J. Wallace, J. Chou, N. Al Sukaiti, R. Geha (USA)
094
HEALTH RELATED QUALITY OF LIFE AND EMOTIONAL HEALTH IN PATIENTS WITH CHRONIC GRANULOMATOUS DISEASE: A MULTICENTER STUDY OF THE ITALIAN PRIMARY IMMUNODEFICIENCY NETWORK (IPINET) B. Martire, M. Sangerardi, M.G. Foschino, A. Plebani, A.R. Soresina, A. Finocchi, G. Dimatteo, C. Pignata, E. Cirillo, A. Aiuti, M. Migliavacca, A. Trizzino, A. Bertaina, M. Gattorno, M. Decarli, G. Fabio, F. Pulvirenti (Italy)
095
INFECTIOUS AND NON-INFECTIOUS SYMPTOMS IN A COHORT OF FEMALE CARRIERS OF CYBB GENE MUTATIONS, CAUSATIVE OF CHRONIC GRANULOMATOUS DISEASE (CGD) D. Yukhacheva, A. Roppelt, A. Laberko, V. Burlakov, E. Deripapa, Y. Rodina, T. Varlamova, E. Raykina, N. Davydova, I. Demina, A. Popov, A. Shcherbina (Russia)
096
THE GENETIC BASIS FOR RECURRENT HERPES VIRUS MENINGITIS – A ROLE FOR DEFECTIVE AUTOPHAGY? A. Schneider Hait, T. Hyrup Mogensen, S. Riis Paludan (Denmark)
097
TOLL-LIKE RECEPTOR 2 EXPRESSION ON MONOCYTES FROM PATIENTS WITH MYCOBACTERIUM BOVIS BCG-ASSOCIATED SUPPURATIVE LYMPHADENITIS K.S. Shin (Republic of Korea)
098
QUALITY OF LIFE OF PATIENTS’ FAMILIES’ USING HOSPITAL-BASED INTRAVENOUS IMMUNOGLOBULIN AND HOME-BASED SELF-ADMINISTRATED SUBCUTANEOUS IMMUNOGLOBULIN IN POLISH CHILDREN WITH PRIMARY IMMUNODEFICIENCY DISEASES A. Sobocińska, I. Stelmach (Poland)
099
HUMAN GENETIC BASIS OF SEVERE PYOGENIC INFECTIONS IN CHILDHOOD A. Spaan, F. Vandenesch, C. Picard, B. Boisson, J.L. Casanova (USA)
100
IDENTIFICATION OF MUTATIONS IN INTERFERON REGULATORY FACTOR 7 IN AN ADULT PATIENT WITH SEVERE INFLUENZA INFECTION. M.M. Thomsen, S.E. Jørgensen, H.H. Gad, L.K. Dalskov, M. Christiansen, M. Storgaard, R. Hartmann, T.H. Mogensen (Denmark)
101
VARIANT LOCATED IN C3A ANAPHYLATOXIN RESULTS IN HYPERACTIVATION OF C3 AND ASSOCIATES WITH AHUS AND C3G. A.V. Marin, D. Chacón, Ó. Sabúz, E. Arjona, H. Martín Merinero, S. Rodríguez de Córdoba, J.R. Regueiro, A. Tortajada (Spain)
102
CHARACTERIZATION OF REVERTANT CELLS IN A PATIENT WITH X-LINKED ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY T. Wada, Y. Matsuda, T. Shirahashi, Y. Mitani, T. Toma, O. Ohara, K. Tanita, H. Kanegane, A. Yachie (Japan)
103
ALTERED NK CELL HOMEOSTASIS IN CVID PATIENTS D. Friedmann, S. Unger, B. Zecher, M. Hofmann, K. Warnatz (Germany)
104
ACETAMINOPHEN TREATMENT REVERSIBLY INHIBITS THE NEUTROPHIL OXIDATIVE BURST ASSAY C. Yee, E. Tsitsikov, F. Bonilla, C. Platt (USA)
105
INFLAMMATORY BOWEL DISEASE WITH VERY EARLY ONSET: MUTATION IN THE IL-10 SIGNALLING PATHWAY M. Zelieskova, Z. Havlicekova, M. Jesenak (Slovak Republic)
106
INTERFERON GAMMA DEFICIENCY REVEALED BY BCGOSIS AND COMPLICATED BY HLH F. Ailal, I. Benhsaien, J. Bustamante, J.L. Casanova, A.A. Bousfiha (Morocco)
318
HEREDITARY PATTERN OF CHRONIC GRANULOMATOUS DISEASE IN MEXICO L. Blancas-Galicia, C. Deswarte, M.A. Yamazaki-Nakazhimada, F. Saracho-Weber, M.N. Guzman Hernández, T. Staines Boone, F. Espinosa Rosales, S. Espinosa Padilla, J. Bustamante (Mexico)
319
INCREASED MYCOBACTERIAL SUSCEPTIBILITY AND AUTOINFLAMMATORY PHENOTYPE DUE TO COMBINATION OF IFNGR1 AND NOD2 MUTATIONS Z. Paračková, M. Bloomfield, A. Klocperk, I. Zentsová, P. Vrabcová, R. Zachová, M. Svatoň, E. Froňková, T. Kalina, A. Šedivá (Czech Republic)
320
OTHERS 2
Poster Board Number
PRIMARY OR SECUNDARY HYPOGAMMAGLOBULINEMIA: DIFFICULT TO RESOLVE S. Andrejevic, B. Bonac-Nikolic, R. Mijanovic, P. Vladimir (Serbia)
107
POOR IMMUNE RECONSTITUTION AFTER LATE HEMATOPOIETIC STEM CELL TRANSPLANTATION IN PATIENT WITH MHC CLASS II DEFICIENCY N. Kechout, R. Boukari, K. Saidani, H. Boudiaf, S. Ladj, S. Otsmane, N. Attal (Algeria)
108
UPDATE ON ALGERIAN REGISTRY OF PRIMARY IMMUNODEFICIENCIES R. Boukari, A. Yagoubi, A. Boufersaoui, M.L. Atif, L. Smati, K.N. Benhalla, S. Touri, N. Cherif, S. Melzi, L. Oukrif, M.Y. Ferhani, S. Ladj, R. Belbouab, N. Kechout, R. Djidjik, C. Boubidi, A. Guedouar, W. Drali, A. Dehimi, A. Mohand Oussaid, A. Tahiat, L. Kedji, F. Benhassine, S. Naamoune, K. Djenouhat (Algeria)
109
ADVERSE REACTIONS OF IMMUNOGLOBULIN INFUSIONS IN PRIMARY IMMUNODEFICIENT PATIENTS C. Piza, M.C. Ortega, L. Bezrodnik, G. Seminario, E. Mansour, C. Cuellar, P. Roxo-Jr, H. Chong-Neto, B. Costa-Carvalho, A. Condino-Neto (Brazil)
110
LOSS OF IMMUNE TOLERANCE IN PATIENTS WITH PRIMARY HUMORAL IMMUNODEFICIENCY D. Deleanu, L. Damian, F. Vasile (Romania)
111
THE FIRST REPORT OF PRIMARY IMMUNODEFICIENCIES (PIDS) FROM SUDAN N. Erwa, T. Intisar, R. Goda, N. Ahmed, O. Abdelmajeed, S. Elmahdi, F. Nagi, T. Zean Elabdeen (Sudan)
112
PID DIAGNOSED BEYOND 50 YEAR OLD AGE: CLINICAL FEATURES OF 26 PATIENTS M. Geisler, T. Moulinet, J. Campagne, J. Deibener-kaminsky, S. Mohamed, F. Fouyssac, R. Jaussaud (France)
113
THE IMPORTANCE OF PHYSICIANS’ EDUCATION IN THE BOARD NUMBER OF BUILDING LONG-LASTING RELATIONS WITH PID PATIENTS B. Prandzioch-Górecka, A. Górecki (Poland)
114
JC-VIRUS GRANULAR CEREBELLAR NEURONOPATHY IN A PATIENT WITH ALPS AND CVID J. Helweg-Larsen, M. Rasmussen, M. Worsøe Rosenstierne, H. Marquart, J. T Bay, R. Lykke Marvig, L.P. Ryder, F. Thorup Sellebjerg, A. Fomsgaard, D. Kondziella (Denmark)
115
IMMUNOPHENOTYPING DIFFERENCES IN HYPER-IGE SYNDROMES ASSOCIATED WITH DOCK8 AND STAT3 MUTATIONS? D. Baser, I. Ogulur, A. Kiykim, N. Kasap, E. Nain, B. Safa, E. Karakoc-Aydiner, A. Ozen (Turkey)
116
HEREDITARY ANGIOEDEMA TYPE 3 (CLINICAL CASE FROM LATVIA) N. Kurjane, V. Kenina, T. Romanova, R. Engels, S. Upmale (Latvia)
117
HEPATIC DISEASE IN ATAXIA-TELANGIECTASIA, DIAGNOSED IN INSTITUTO NACIONAL DE PEDIATRÍA IN MEXICO CITY R. Laurel, S. Scheffler-Mendoza, M.A. Yamazaki-Nakashimada (Mexico)
118
A BOY WITH X-LINKED INHIBITOR OF APOPTOSIS PROTEIN (XIAP) DEFICIENCY AS THE INITIAL PRESENTATION OF PURE RED CELL APLASIA N.Y. Lee, K.H. Kim, J.W. Rhim, S.Y. Lee, S.B. Han, N.G. Chung, B. Cho, J.H. Kang, M.S. Kim, D.C. Jeong (Republic of Korea)
119
DISTINCT NON-MHC GENE ASSOCIATIONS IN IGAD PATIENTS CARRYING DIFFERENT MHC SUSCEPTIBILITY HAPLOTYPES C.K. Lim, J. Varadé, Y.T. Goh, T.W. Behrens, L. Hammarström (Singapore)
120
MALIGNANCY AND PRIMARY IMMUNODEFICIENCY DISEASES S. Lotfy, N. Galal, S. Meshaal, R. Elhawary, D. Abdel Aziz, R. Alkady, A. Eldash, A. El-Marsafy, J. Boutros (Egypt)
121
PSYCHOLOGICAL SYMPTOMS IN PRIMARY IMMUNODEFICIENCY PATIENTS IN A DUTCH TERTIARY CARE HOSPITAL O. Manusama, H. Drexhage, M. Van Hagen, V. Dalm (The Netherlands)
122
PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY: TWO CASE REPORTS AND A NEW MUTATION F. Andrade, L. Marques, M. Guedes, E. Neves, J. Vasconcelhos (Portugal)
123
A NOVEL HOMOZYGOUS MUTATION IN THREE TUNISIAN PATIENTS WITH MAJOR HISTOCOMPATIBILITY COMPLEX CLASS II DEFICIENCY
124
N. Mekki, I. Ben-Mustapha, H. Besbes, M. Ben-Ali, S. Hammami, A. Ben-Chehida, M. Bejaoui, M.R. Barbouche (Tunisia)
NOVEL MUTATION IN BIRC4/XIAP GENE IN PATIENT WITH ATYPICAL COURSE OF CROHN´S DISEASE T. Milota, Z. Parackova, P. Vrabcova, I. Zentsova, M. Svaton, A. Sediva (Czech Republic)
125
AUTOSOMAL DOMINANT HYPER-IGE SYNDROME (AD-HIES) WITHOUT ELEVATED SERUM IGE C.S. Larsen, M. Christiansen, T. Mogenson (Denmark)
126
REPORT OF TWO SIBLINGS WITH CD27 DEFICIENCY WHO PRESENTED WITH ROSAI- DORFMAN SYNDROME AND LYMPHOPROLIFERATION T. Momen (Iran)
127
TRANSPLANTATION OF MUTATED TACI BY BMT TO A CVID PATIENT WITH ANAPHYLAXIS TO IVIG. SHOULD WE TEST FOR MUTATIONS ALL DONOR HEMATOPOIETIC STEM CELLS? D. Moraes Vasconcelos, D.L. Bertolini-, A. Duarte, R. Rosa, C. Deringer, V. Funke, J.B. Oliveira, V. Rocha (Brazil)
128
PRIMARY IMMUNODEFICIENCY DISEASES IN A SINGLE DERMATOLOGICAL OUTPATIENT UNIT FROM A TERTIARY UNIVERSITY HOSPITAL IN SÃO PAULO, BRAZIL. D. Moraes Vasconcelos, M. Domingues Ferreira, D.L. Bertolini, N. Chuffi Barros, L.E. Prestes Carneiro, A. Duarte (Brazil)
129
MINIPUBERTY AND THYMIC SEXUAL DIMORPHISM IN THE INFANT HUMAN THYMUS C.A. Moreira-Filho, S.Y. Bando, F.B. Bertonha, L.R. Ferreira, L.H.B. Oliveira, M.M.S. Carneiro-Sampaio (Brazil)
130
CLINICAL CASE: PATIENT WITH TRNT1 MUTATION PRESENTED WITH AGAMMAGLOBULINEMIA AND INTRACTABLE DIARRHEA I. Moreira, A. Seminario, L. Regairaz, A. García, M. Esnaola, M. Fleming, L. Bezrodnik (Argentina)
131
THE PROJECT VAXINPERMAM: PRELIMINARY RESULTS ON A MATERNAL IMMUNIZATION SURVEY L. Chini, A. Pietropolli, M.V. Capogna, C. Rizzo, V. Avarino, V. Giovinazzo, S. Graziani, B. Martire, E. Piccione, V. Moschese (Italy)
132
PRIMARY IMMUNODEFICIENCY CASES IN INDONESIA: REPORT FROM A LIMITED RESOURCES COUNTRY D. Muktiarti, N. Kurniati, E. Citraresmi, C.D. Satria (Indonesia)
133
SYRINGEABILITY AND INJECTABILITY COMPARISON OF COMMERCIALLY AVAILABLE HUMAN SUBCUTANEOUS IGG DRUG PRODUCTS A. Muranyi, J. Römisch (Austria)
134
INFECTIONS AND LYMPHOCYTE SUBSET ALTERATIONS IN ATAXIA TELANGIECTASIA MUTATED KINASE CARRIERS I. Ogulur, T. Ertuzun, A. Ozen, E. Uyar, A. Kiykim, D. Baser, G. Yesil, H. Akturk, A. Somer, M. Muftuoglu, E. Karakoc-Aydiner, S. Baris (Turkey)
135
CD55 MEDIATED LOSS OF CO-STIMULATION CAUSES INSUFFICIENT IL10 PRODUCTION IN PATIENTS WITH CD55 A. Ozen, I. Ogulur, A. Kiykim, S. Baris, E. Karakoc-Aydiner (Turkey)
136
IS IT POSSIBLE TO DISTINGUISH TRUE LRBA PATIENTS WITH THE EXPRESSION OF THE LRBA PROTEIN BY FLOW CYTOMETER? I. Ogulur, A. Kiykim, E. Karakoc-Aydiner, B. Safa, A. Ozen (Turkey)
137
REFRACTORY VISCERAL LEISHMANIASIS OCCURRED DURING CONGENITAL NEUTROPENIA M. Ben Khaled, R. Cherni, M. Ouederni, S. Rekaya, S. Jouahri, W. Touati, N. Dhouib, F. Mellouli, M. Bejaoui (Tunisia)
138
GRANULOMATOUS RESPIRATORY MANIFESTATIONS IN COMMON VARIABLE IMMUNODEFICIENCY S. Rekaya, M. Ben Khaled, M. Ouederni, W. Touati, R. Cherni, O. Ben Zaied, S. Jouahri, R. Kouki, F. Mellouli, M. Bejaoui (Tunisia)
139
KNOWLEDGE EVALUATION OF NURSES ABOUT PRIMARY IMMUNODEFICIENCY DISEASES M. Ben Khaled, O. Ben Zaied, M. Ouederni, S. Rekaya, S. Jouahri, R. Cherni, W. Touati, R. Kouki, N. Douib, F. Mellouli, M. Bejaoui (Tunisia)
140
CASE OF LRBA DEFICIENCY AND CHRONIC INTERSTISYEL NEPHRITIS S. Özen, O. Akcal, N. Gulez, F. Genel, I. Akil, H. Gulen (Turkey)
141
A GRANULOMATOUS-LYMPHOCYTIC INTERSTITIAL LUNG DISEASE (GLILD) IN PATIENT WITH COMMON VARIABLE IMMUNODEFICIENCY (CVID). M. Pac, K. Bernat-Sitarz, H. Dmenska, M. Pronicki, J. Komarnicka, B. Piatosa, E. Heropolitanska-Pliszka, D. Skoczynska, B. Pietrucha, E. Bernatowska (Poland)
142
QUALITY OF LIFE IN PRIMARY ANTIBODY DEFICIENCIES S. Pereira da Silva*, F. Barbosa*, A. Varandas, R. Ferreira, M. Laiges, S. Lopes da Silva, M. Pereira Barbosa (Portugal)
143
ANOTHER FACE TO NFKB2 MUTATIONS: A CASE REPORT J. Peter, B. Glanzmann, M. Urban, M. Moller, M. Esser, C. Kinnear (South Africa)
144
GLOBAL STATUS OF PID PRINCIPLES OF CARE M. Pergent, J. Prevot, N. Mahlaoui, S. Kiema, L. Solis (United Kingdom)
145
EXPERIENCE OF DIAGNOSIS AND TREATMENT OF PATIENTS WITH X-LINKED CHRONIC GRANULOMATOUS DISEASE IN LATVIA T. Prokofjeva, T. Sarajeva, I. Grantiņa (Latvia)
146
RETROSPECTIVE EVALUATION OF PATIENTS WITH PID BETWEEN 2001–2016 IN KONYA I. Reisli (Turkey)
147
WHOLE GENOME SEQUENCING REVEALS CHILDHOOD AUTOIMMUNE DISEASE INFREQUENTLY RESULTS FROM MENDELIAN INHERITANCE OR DE NOVO MUTATIONS INSTEAD EXHIBITING A HIGH BURDEN OF COMMON RISK VARIANTS A. Russell, M. Craig, O. Siggs, M. Pinese, P. Gray, K. Jackson, A. Minoche, V. Gayevskiy, D. Thomas, M. Dinger, M. Cowley, M. Wong, J. Teo, R. Dale, M. Stormon, C. Goodnow (Australia)
148
EVALUATION OF POLYSACCHARIDE ANTIBODY RESPONSE IN PATIENTS WITH B CELL HEMATOLOGICAL MALIGNANCY J. Ochoa Grullón, C. Benavente, R. Martínez, A. Peña, A. Álvarez, M. Polo, K. Guevara Hoyer, A. Rodríguez de la Peña, K. Llano Hernández, E. Rodríguez de Frías, M. Serrano Blanco, G. Cordero, C. D´Angelo, C. Orte, S. Sánchez-Ramón (Spain)
149
IMPROVING OUTCOMES IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY F.O. Seeborg, C. Scalchunes, R. Seay, A. Nguyen, J. Boyle, J.S. Orange (USA)
150
THE ICEBERG MAP OF GERMLINE MUTATIONS (INCL. PRIMARY IMMUNODEFICIENCIES) THAT PREDISPOSE TO CANCERS IN CHILDREN AND ADOLESCENTS O. Kindler, M. Seidel (Austria)
151
AUTOIMMUNE PHENOMENA VERSUS AUTOIMMUNE DISEASES IN PATIENTS WITH PRIMARY IMMUNODEFICIENCIES O.I. Sobieschi, M. Aguilar Gonzalez, M.I. Alcala Peña, M.L. Vargas Perez (Spain)
152
EPIDEMIOLOGICAL STUDY ON THE INCIDENCE OF ACUTE RESPIRATORY INFECTIONS CAUSED BY RESPIRATORY SYNCYTIAL VIRUS REQUIRING HOSPITALIZATION IN PEDIATRIC POPULATIONS WITH PRIMARY IMMUNODEFICIENCY (THE PID-RSV STUDY). A. Martin-Nalda, I. Gonzalez-Granado, L. Alsina, O. Neth, M. Santamaria, C. Carreras-Gil de Santivañes, T. Del Rosal, M.E. Seoane-Reula, P. Llobet-Agullo, S. De Arriba-Mendez, J.L. Santos-Perez, J.D. Moure-Gonzalez, J.T. Ramos, J. Dueñas-Morales, P. Soler-Palacín (Spain)
153
TOPOLOGICAL ANALYSIS OF DEVELOPMENTAL PATHWAYS IN THE HIGHLY COMPLEX MASS CYTOMETRY DATASETS OF LYMPHOCYTES’ DEVELOPMENT J. Stuchly, N. Brdickova, D. Kuzilkova, M. Cuenca, P. Engel, O. Hrusak, T. Kalina (Czech Republic)
154
EVALUATION OF AUTOIMMUNE CYTOPENIAS IN PATIENTS WITH PRIMARY ANTIBODY DEFICIENCY M. Tavakol, A. Aghamohammadi, G. Azizi (Iran)
155
ORAL VITAMIN D FOR THE EFFECTIVE TREATMENT OF REFRACTORY PLANTAR AND PALMER WARTS C. Tsakona (United Kingdom)
156
TCR V BETA REPERTOIRE IN DI GEORGE SYNDROME PATIENTS M. Tzanoudaki, S. Tantou, E. Gkika, A. Manousou, E. Ploumi, V. Polaki, A. Limioti, H. Fryssira, M. Liatsis, M. Kanariou (Greece)
157
A WIDE SPECTRUM OF AUTOIMMUNE MANIFESTATIONS IN PATIENTS WITH CARTILAGE-HAIR HYPOPLASIA S. Vakkilainen, R. Mäkitie, P. Klemetti, H. Valta, M. Taskinen, E.S. Husebye, O. Mäkitie (Finland)
158
PROGRESSIVE LATE-ONSET HYPOGAMMAGLOBULINEMIA IN A FAMILY WITH 18Q DELETION SYNDROME G. Vitiello, B. Palterer, A. Carraresi, S.R. Giglio, F. Liotta (Italy)
159
VACCINE COMPLICATIONS IN PRIMARY IMMUNODEFICIENCY A. Volokha, A. Bondarenko, A. Hilfanova, L. Chernyshova (Ukraine)
160
COMMON VARIABLE IMMUNODEFICIENCY (CVID) AND TWO DIFFERENT CONSECUTIVE STAGE IV LYMPHOMAS IN 14-YEAR OLD BOY A. Wakulinska, M. Stypinska, B. Wolska-Kusnierz, W. Grajkowska, J. Trubicka, B. Dembowska-Baginska (Poland)
161
UREAPLASMA UREALYTICUM ARTHRITIS AND GENITAL TRACT INFECTIONS IN PATIENT WITH COMMON VARIABLE IMMUNODEFICIENCY M. Ziętkiewicz, H. Suchanek, Z. Zdrojewski (Poland)
162
PATHOPHYSIOLOGY OF PID
Poster Board Number
STAT5B DEFICIENCY DUE TO A NOVEL MISSENSE MUTATION IN THE COILED-COIL DOMAIN M. Acres, A. Grainger, F. Gothe, D. Swan, S. Leech, S. Galcheva, V. Iotova, S. Hambleton, E. Karin (United Kingdom)
163
CD79A DEFICENCY: A RARE CAUSE OF FAMILIAL HYPOGAMMAGLOBULINEMIA A. Al Kuwaiti, H. Shendi (United Arab Emirates)
164
MOLECULAR GENETIC DEFECTS OF HEREDITARY ANGIOEDEMA IN SAUDI ARABIA A. Alqahtani, H. Alajlan, S. Alhissi, H. Alrayes, R. Arnaout, B. Al Saud, H. Aldhekri, H. Al Mousa, A. Khaliq, N. Sayes, F. Sheikh, A. Alazami (Saudi Arabia)
165
PRESENTATION, AND PROGNOSIS OF MALIGNANCIES IN ATAXIA-TELANGIECTASIA: 7 MEXICAN PATIENTS. J. Barroso Santos, S. Espinosa-Padilla, S. Scheffler, E.A. De la Cruz Córdoba, M.A. Yamazaki, M.E. Gonzalez (Mexico)
166
HOMOZYGOUS NIK MUTATION PRESENTING AS CEREBRAL MYCOBACTERIAL DISEASE WITH B CELL LYMPHOPENIA AND HYPOGAMMAGLOBULINEMIA K. Ben Farhat, M. Alosaimi, H. Shendi, J. Jones, L.S. Alawdah, S. Burchett, S. Albuhairi, H. Alsafar, J. Whangbo, K. Schwarz, M. Hönig, H. Shamseddin, F.S. Alkuraya, R.S. Geha, J. Chou (USA)
167
ANALYZING THE POTENTIAL ROLE OF CANDIDATE GENE MUTATIONS REGARDING NK- AND B-CELL DEVELOPMENT IN A PID WITH ASPLENIA J. Blaha, U. Pannicke, G. Barbi, T. Cathomen, J.J.M. Van Dongen, A. Enders, U. Wintergerst, K. Schwarz (Germany)
168
PI3KCD CHANGES IN DNA METHYLATION LEVELS AMONG CVID PATIENTS WITH UNKNOWN AETIOLOGY N. Camacho-Ordonez, N. Glaser, A. Weiβ, M. Elgizouli, K. Warnatz, B. Grimbacher (Germany)
169
NATURAL KILLER CELL ABNORMALITIES IN PATIENTS WITH 22Q11.2 DELETION SYNDROME D. Soares, M. Matta, A. Dantas, A. Pastorino, L. Kulikowski, M. Montenegro, N. Nunes, M.I. Melaragno, C. Kim, L. Torres, M. Carneiro-Sampaio (Brazil)
170
NGS INVESTIGATION IN ADULT CVID PATIENTS M. Carrabba, S. Giliani, M. Zarantonello, G. Fabio (Italy)
171
A HOMOZYGOUS SPLICE-SITE MUTATION IN CARMIL-2 LEADS TO IMPAIRED TCR SIGNALING AND ACTIN REMODELING DEFECTS C. Castro, M.E. Maccari, S. Ammann, G. Griffiths, C. Has, S. Ehl (Germany)
172
REDUCED BONE DENSITY AND RECURRENT FRACTURES IN A PATIENT WITH A GAIN-OF-FUNCTION (GOF) MUTATION IN STAT1. V. Cunill, Á. Molina-Fuentes, J.M. Ferrer, M.R. Julià, A. Martín-Santiago, J. Dueñas, J. Ramakers, J. Pons, N. Martinez-Pomar (Spain)
173
POLYGENIC BURDEN IN COMMON VARIABLE IMMUNODEFICIENCY? A MONOZYGOTIC TWIN PAIR STUDY M. Gaspar Fonseca, A. Serra-Caetano, M. Pereira, S. P. Silva, L. Hammarstrom, M. Gama Carvalho, S. L. Silva, A. E. Sousa (Portugal)
174
QUANTITATIVE AND QUALITATIVE DEFECTS IN PRECURSOR B-CELL DEVELOPMENT IN BONE MARROW OF GOOD SYNDROME PATIENTS L. Del Pino Molina, M. Wentink, M. Van Deuren, M. Van Hagen, C.I.E. Smith, M. Van der Burg (Spain)
175
LONG-TERM CLINICAL AND IMMUNOLOGICAL MONITORING OF AN APDS PATIENT TREATED WITH SIROLIMUS L. Del Pino Molina, F.J. Aracil-Santos, M. Bravo, E. López-Granados (Spain)
176
PHENOTYPIC AND GENETIC VARIABILITY OF SAP-DEFICIENCY: CLASSICAL XLP, XLP WITH SOMATIC REVERSION AND FEMALE XLP-CARRIER WITH SKEWED X-INACTIVATION A. Eichinger, S. Javeri, T. Magg, R. Conca, I. Somekh, I. Eckerlein, M. Hofmann, E. Eisl, S. Schlieben, G. Strotmann, F. Hoffmann, K. Reiter, M.H. Albert, C. Klein, F. Hauck (Germany)
177
ALTERED LIPID METABOLISM LINKED TO INFLAMMATORY AND AUTOIMMUNE COMPLICATIONS IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY M. Eide Macpherson, B. Halvorsen, A. Yndestad, T. Ueland, R.K. Berge, A. Rashidi, P. Aukrust, B. Fevang, S.F. Jørgensen (Norway)
178
DOCK2 DEFICIENCY IN A PATIENT PRESENTING WITH CD4 AND B CELL LYMPHOPENIA R. Elhawary, N. Galal, S. Meshaal, D. Abd Elaziz, S. Lotfy, J. Boutros, J. Chou, R. Geha, A. Elmarsafy (Egypt)
179
PATIENTS WITH CHRONIC GRANULOMATOUS DISEASE WITH AND WITHOUT GASTROINTESTINAL INFLAMMATION HAVE A DISTINCT INTESTINAL MICROBIOME SIGNATURE E.L. Falcone, Y. Han, C.S. Zerbe, S. Kreuzburg, T. Heller, S.S. DeRavin, H.L. Malech, C. Deming, J.A. Segre, S.M. Holland (USA)
180
CLINICAL PRESENTATION AND MANAGEMENT OF A PATIENT WITH A VARIANT IN IMMUNORESPONSIVE GENE 1 (IRG1) J. Farela Neves, A. Cordeiro, K. McCann, A. Hsu, S. Holland (Portugal)
181
RISK OF PULMONARY HYPERTENSION IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY. J. Farmer, S. Barmettler, M.S. Ong, J. Walter (USA)
182
SERIOUS COMPLICATION IN COMMON IMMUNODEFICIENCY VARIABLE: CASE REPORT. C. Ferreira, M. Vieira, A. Guilherme, I. Lopes (Portugal)
183
IL-21 AND ANTI-CD40 RESTORE BCL-2 FAMILY PROTEINS IMBALANCE IN LOW SURVIVAL CD27+ B CELLS FROM COMMON VARIABLE IMMUNODEFICIENCY PATIENTS A. López-Gómez, A. Clemente, V. Cunill, J. Pons, J. Ferrer (Spain)
184
LATE-ONSET GRANULOMATOUS HEPATIC DISEASE AND LYMPHOCYTOSIS IN PERFORINOPATHY V. Fonseca, A.S. Caetano, M.B. García-Morato, J. Valentin Quiroga, L.Y. Bravo Gallego, A. Albuquerque, D. López-Presa, C. Mota, M. Teixeira Silva, A.C. Ferreira, R. Victorino, A. Pérez-Martinez, E. López-Granados, A.E. Sousa (Portugal)
185
MOLECULAR CHARACTERIZATION OF SIX COLOMBIAN PATIENTS WITH MHC CLASS II DEFICIENCY DUE TO NOVEL MUTATIONS IN CIITA WITH POTENTIAL FOUNDER EFFECT A. Franco-Gallego, R.G. Peláez Sánchez, C. Arango Ferreira, J.C. Villada, C. Garcés, N. Builes, A. Escobar, J. Rodríguez, J. Bustamante, C. Picard, J.L. Franco (Colombia)
186
GUT MICROBIOME ANALYSIS IN COMMON VARIABLE IMMUNODEFICIENCY (CVID) PATIENTS K. Fiedorova, M. Radvansky, P. Kralickova, M. Cernochova, E. Nemcova, H. Grombirikova, J. Bosak, M. Lexa, J. Litzman, D. Smajs, T. Freiberger (Czech Republic)
187
AUTOIMMUNITY AND IMMUNODEFICIENCY IN TWO PATIENTS HARBORING A NOVEL HOMOZYGOTE MUTATION IN MALT1 GENE S. Frizinsky, A.J. Simon, A. Lev, E. Rehavi, O. Barel, Y.N. Lee, T. Stauber, R. Somech (Israel)
188
TRANSCRIPTION FACTOR EPAS1 LINKS DOCK8 DEFICIENCY TO ATOPIC SKIN INFLAMMATION VIA IL-31 INDUCTION IN HELPER T CELLS Y. Fukui (Japan)
189
MHV68 INFECTION IN ITK-/- DEFICIENT MICE – A MODEL FOR EBV LYMPHOPROLIFERATION ? S. Ghosh, I. Drexler, S. Bhatia, S. Tao, C. Knobbe-Thomsen, A. Borkhardt (Germany)
190
A MODEL SYSTEM TO STUDY STAT1 PHOSPHORYLATION IN CMC (CHRONIC MUCOCUTANEOUS CANDIDIASIS) AND CVID (COMMON VARIABLE IMMUNE DEFICIENCY) S. Hanson, S. Burns (United Kingdom)
191
CEREBRAL CRYPTOCOCCOSIS IN A HIV-1-NEGATIVE PATIENT ASSOCIATED WITH SARCOIDOSIS AND DEFICIENCY OF MANNOSE-BINDING-LECTIN T. Harrer, S. Günzelmann, T. Bollinger, P. Oschmann, T. Jess (Germany)
192
IDENTIFICATION OF AUTOANTIBODIES USING HUMAN PROTEOME MICROARRAYS IN PATIENTS WITH IPEX SYNDROME A. Hoshino, M. Takagi, M. Nishi, I. Tsuge, K. Imai, H. Kanegane, T. Morio (Japan)
193
QUANTITATIVE ASSESSMENT OF NFKB TRANSCRIPTION FACTOR ACTIVITY IN HEALTH AND DISEASE T. Hunter, D. Fear, P. Lavendar, J. Spencer, M. Peakman, M. A A Ibrahim (United Kingdom)
194
COMMON GAMMA CHAIN DEFICIENCY PREFERENTIALLY AFFECTING IL-4R- AND IL-21R-MEDIATED SIGNALING D. Illig, M. Navratil, J. Kelečić, R. Conca, M. Rohlfs, S. Hollizeck, J. Bohne, C. Klein, D. Kotlarz (Germany)
195
DYSGAMMAGLOBULINEMIA, PROGRESSIVE B CELL DEFICIENCY AND LOSS OF T CELL NAIVETY IN A FAMILY WITH A NOVEL HETEROZYGOUS (GERMLINE) IKFZ1 MUTATION S. Javeri, A. Rack-Hoch, T. Magg, M. Rohlfs, A. Boekstegers, I. Eckerlein, M. Hofmann, E. Eisl, S. Schlieben, G. Strotmann, M. Albert, C. Klein, F. Hauck (Germany)
196
GRANULOMATOUS LYMPHOCYTIC INTERSTITIAL LUNG DISEASE (GLILD) CASES IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY (CVID) FROM A SINGLE CENTRE BETWEEN 1994 AND 2018: COMPARISON WITH CONSENSUS T. Kanwar, E. Staples, D. Kumararatne, A. Manson, P. Wright, J. Babar, S. Karia, T. Sadler, M. Fordham, D. Springett, C. Sander (United Kingdom)
197
SERUM CXCL13 LEVELS AND CIRCULATING T FOLLICULAR HELPER CELLS CHARACTERISE A DISTINCTIVE PHENOTYPE OF COMMON VARIABLE IMMUNODEFICIENCY (CVID) H. Martini, I. Karafotias, R. Steven, C.V. Lee, K. Sundaram, P. Gurugama, T. Hunter, Z. Adhya, M. Guckian, S. Jolles, M.A.A. Ibrahim (United Kingdom)
198
CORRELATION BETWEEN IGA DEFICIENCY AND SKIN PRICK TEST RESULTS WITH FOOD ALLERGENS IN CHILDREN BORN WITH AND WITHOUT CESBOARD NUMBERN DELIVERY H.A. Khazaei, N. Muolai, J. Dehghan, A. Khazaei, E. Khazaei, B. Khazaei, M. Dehbashi, N. Rezaei, A. Aghammohammai (Iran)
199
CLINICAL AND IMMUNOLOGICAL PHENOTYPE OF PATIENTS WITH PRIMARY IMMUNODEFICIENCY DUE TO MUTATIONS IN NFKB2 C. Klemann, J. Premm, Y. Linlin, Z. Eskandarian, J.L. Rojas-Restrepo, N. Frede, A. Bulashevska, M.S. Al-Ddafari, M. Heeg, M. Seidl, S. Ammann, K. Schwarz, R. Sherkat, M.H. Emami, M. Salehi, S. Sheikhbahaei, M.
200
Behnam, N.C. Ordonez, K. Warnatz, S. Unger, R. Kobbe, A. Hüfner, T.R. Leahy, J. Cox, W. Ip, M. Fliegauf, B. Grimbacher (Germany)
ATYPICAL SIFD PATIENT WITHOUT SIDEROBLASTIC ANEMIA WITH NOVEL TRNT1 MUTATIONS: STUDIES ON MOLECULAR PATHOGENESIS OF B CELL DEFICIENCY AND PERIODIC FEVER E. Kumaki, K. Tanaka, K. Imai, Y. Aoki-Nogami, F. Isikawa, T. Morio (Japan)
201
INFLAMED CVID CD4+ T-CELL LANDSCAPES PROMOTE EXTRA-FOLLICULAR AUTOANTIBODY PRODUCTION C. Le Coz, B. Bengsch, M. Trofa, W. Meng, E.T. Luning Prak, K.E. Sullivan, J.E. Wherry, N. Romberg (USA)
202
OROPHARYNGEAL MICROBIOME AND IMMUNE DYSREGULATION IN COMMON VARIABLE IMMUNODEFICIENCY DISORDER R. Berbers, P. Ellerbroek, J. Montfrans- van, R. Willems, H. Leavis (The Netherlands)
203
MOLECULAR CHARACTERISTICS OF T CELL RECEPTOR GAMMA REPERTOIRE DETERMINED BY NEXT GENERATION SEQUENCING IN PATIENTS WITH MUTATIONS IN ARTEMIS Y.N. Lee, A. Lev, A. Simon, A. Grinberg, R. Somech (Israel)
204
PHENOTYPIC AND FUNCTIONAL B CELL DEFECTS IN IGA DEFICIENCY A.L. Lemarquis, F.P. Theodors, R.N. Kristjansdottir, I. Jonsdottir, H.K. Einarsdottir, B.R. Ludviksson (Iceland)
205
SYSTEMATIC CHARACTERIZATION OF THE T AND B CELL REPERTOIRE USING NEXT GENERATION SEQUENCING IN AT PATEINTS. A. Lev, A.J. Simon, Y.N. Lee, R. Somech (Israel)
206
JUVENILE-ONSET IMMUNODEFICIENCY SECONDARY TO ANTI-INTERFERON GAMMA AUTOANTIBODIES W.K. Liew, M.S.Y. Ng, D.T. Chen, M.J.A. Koh, K.C. Thoon, N.W.H. Tan, C.Y. Chong (Singapore)
207
A NOVEL HEMIZYGOUS MUTATION OF CYBB ASSOCIATED WITH MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE Y. Ling (China)
208
AGAMMAGLOBULINEMIA AND SEVERE INFECTIONS IN A PATIENT WITH 16P11.2 DELETION SYNDROME T. Martelius, M. Kaustio, L. Trotta, T. Hautala, M. Seppänen, J. Saarela (Finland)
209
REGULATION OF IMMUNORESPONSIVE GENE 1 (IRG1) AND FUNCTION OF ITACONATE IN THE HUMAN INNATE IMMUNE RESPONSE K. Mccann, J.P.M. Farela Neves, K. Marsh, H. Kim, S. Holland (USA)
210
CLINICAL PHENOTYPE AND DIAGNOSIS OF 42 EGYPTIAN PATIENTS PRESENTING WITH HYPOGAMMAGLOBULINEMIA S. Meshaal, R. El Hawary, D. AbdelAziz, R. Alkady, A. Eldash, S. Lotfy, N. Galal, J. Boutros, A. Elmarsafy (Egypt)
211
BEYOND RECALL: A UNIQUE FUNCTION OF MEMORY B CELLS IN MUCOSAL PROTECTION C. Milito, R. Carsetti, F. Pulvirenti, G. Donato, I. Quinti (Italy)
212
THE IDENTIFICATION OF MODIFIERS IN CYTOTOXIC-T-LYMPHOCYTE-ANTIGEN-4 (CTLA-4) INSUFFICIENCY N. Mitsuiki, C. Schwab, A. Bulashevska, D. Egg, A. Gabrysch, I.C. Rump, M.G. Kanariou, V. Lougaris, J. Litzman, T.F. Tomas Freiberger, V. Patinio, D. Wolff, H.M. Lorenz, C. Speckmann, S. Ehl, K. Warnatz, B. Grimbacher (Germany)
213
INHERITED RELB DEFICIENCY IS A NEW GENETIC ETIOLOGY OF COMBINED IMMUNODEFICIENCY WITH A HYPER-IGM PHENOTYPE K. Moriya, F. Celmeli, V. Beziat, R. Lévy, M. Migaud, K. Boztug, L. Abel, J.L. Casanova, A. Puel (France)
214
MINING THE MULTIGENIC LANDSCAPE UNDERLYING COMMON VARIABLE IMMUNODEFICIENCY DISORDERS P. Mota Prego Rosmaninho, A. Raposo, H. Abolhassani, L. Hammarström, A.E. Sousa, S.L. Silva (Portugal)
215
A RECURRENT RAG2 MUTATION (C.T653A P.I218N) IN NORTHERN ITALY: A POSSIBLE FOUNDER EFFECT L.D. Notarangelo, G. Carracchia, E. Soncini, V. Bennato, A. Lanfranchi, S. Giliani, L.D. Notarangelo, F. Porta (Italy)
216
INCREASED CD95 EXPRESSION IN PATIENTS WITH 22Q11.2 DELETION (DIGEORGE) SYNDROME D. Aresvik, K. Lima, T. Øverland, R.D. Pettersen, T.G. Abrahamsen (Norway)
217
A CVID PATIENT PRESENTING WITH ONLY DYSPEPTIC SYMPTOMS N. Paksoy, C. Tuzer, S. Beyaz, A. Gelıncık, S. Buyukozturk, B. Colakoglu (Turkey)
218
OUTCOMES OF INTERSTITIAL LUNG DISEASE IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY DISORDERS S. Patel, C. Anzilotti, M. Lucas, N. Moore, H. Chapel (United Kingdom)
219
NOVEL COMPOUND HETEROZYGOUS MUTATION IN PGM3 IN TWO SIBLINGS WITH SEVERE IGE-RELATED DERMATITIS, T-CELL LYMPHOPENIA, WITHOUT SYNDROMIC FEATURES M. Buendia Arellano, A. Deyà-Martínez, S. García-Gómez, C. Cubillos Zapata, A. Vicente, C. Prat, E. López-Collazo, L. Alsina, R. Pérez De Diego (Spain)
220
DEFECTIVE REPLICATION STRESS RESPONSE: A CLUE TO THE T-CELL IMMUNODEFICIENCY IN SCHIMKE IMMUNO-OSSEOUS DYSPLASIA (SIOD)? A. Safa, M. Perrig, A.V. Marin, A. Jiménez-Reinoso, A.C. Briones, R. Chaparro, E. Román-Ortiz, P.P. Cárdenas, J.R. Regueiro, M.J. Recio (Spain)
221
NOVEL STIM1 DEFICIENCY ASSOCIATED WITH MILD IMMUNOLOGICAL PHENOTYPE L. Rice, C. Stockdale, I. Berry, S. Preston, S. O'Riordan, R. Anwar, C. Carter, S. Savic (United Kingdom)
222
HYPOGAMMAGLOBULINEMIA, IMPAIRED VACCINE RESPONSE, AND RECURRENT INFECTIONS IN MUCOLIPIDOSIS II F. Saettini, J. Davison, A. Thrasher, B. Claire (Italy)
223
LEUKOCYTE ADHESION DEFICIENCY-I: A COMPREHENSIVE REVIEW OF ALL PUBLISHED CASES S. Kasbekar, E. Almarza Novoa, A.J. Thrasher, D.B. Kohn, J. Sevilla, T. Nguyen, J.A. Bueren, J.D. Schwartz (USA)
224
THE PHENOTYPE OF WIP DEFICIENCY W. Schwinger, C. Urban, R. Ulreich, D. Sperl, A. Karastaneva, V. Strenger, H. Lackner, K. Boztug, M. Benesch, M. Seidel (Austria)
225
RITUXIMAB AS A TRIGGERING FACTOR FOR THE DEVELOPMENT OF COMMON VARIABLE IMMUNODEFICIENCY (CVID) E. Sevdali, A.M. Peristeri, E. Farmaki, G. Tsinti, M. Palassopoulou, A. Kioumi, N. Stavrogianni, M. Speletas (Greece)
226
OUTCOMES OF PATIENTS WITH X-LINKED AGAMMAGLOBULINAEMIA IN ENGLAND AND WALES B. Shillitoe, A. Gennery, M. Pearce, W. Ip, S. Hackett, A. Huissoon, S. Jolles, A. Bansal, S. Savic, S. O'Riordan, S. Hughes, T. Garcez, M. Buckland, A. Herwadkar, H. Alachkar, W. Egnder, T. Williams, S. Faust (United Kingdom)
227
A CASE OF TELOMEROPATHY WITH VARIABLE PENETRANCE P. Shires, C. Waruiru, H. Clements, K. Ugonna, T. Flood, F. Shackley, N. Shannon, I. Dokal (United Kingdom)
228
IMMUNODEFICIENCY AND COLITIS AS A CONSEQUENCE OF PI3KΔ DEFICIENCY G. Sogkas, M. Fedchenko, R.E. Schmidt, F. Atschekzei (Germany)
229
A LARGE COHORT OF RAG 1/2 DEFICIENT SCID PATIENTS – CLINICAL, IMMUNOLOGICAL AND PROGNOSTIC ANALYSIS T. Stauber, R. Somech, A. Lev, A.J. Simon, A. Grinberg, N. Greenberg (Israel)
230
THREE NOVEL NFKB1 MUTATIONS IN COMMON VARIABLE IMMUNODEFICIENCY S. Steiner, A.B. Stittrich, M. Danyel, K. Wittke, F. Sotzny, C. Scheibenbogen, L.G. Hanitsch (Germany)
231
NOVEL HUMAN NFKB2 PROTEIN MUTATION IN TWO UNRELATED PATIENTS IDENTICAL TO KNOWN LYM1 MUTATION IN MICE K. Sundaram, J. Guly, S. Tadros, F. Smith, T. Hunter, H. Martini, I. Karafotias, G. Hayman, M. Ibrahim (United Kingdom)
232
NEUROBLASTOMA AMPLIFIED SEQUENCE (NBAS) MUTATIONS IN A FAMILY WITH IMMUNODYSREGULATION; A LONG-TERM FOLLOW-UP N. Suratannon, S. M.A. Swagemakers, V. A.S.H. Dalm, W. Dik, M. Van der Burg, B. Barendregt, I. Van den Borne, P. Chatchatee, P. J. van de Spek, P.M. Van Hagen (The Netherlands)
233
NEW INSIGHTS ON X-LINKED AGAMMAGLOBULINEMIA CLINICAL MANIFESTATION SEVERITY: THE MODULATION OF THE TOLL-LIKE RECEPTOR SIGNALING BY DIFFERENT BTK MUTATIONS M. Teocchi, T. Andrade Eugênio, L. Furlaneto Marega, M.M. Vilela (Brazil)
234
VARIABLE CLINICAL AND MOLECULAR PHENOTYPES OF IFNGR1 MUTATIONS IN MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE IN SOUTH AFRICA A. Van Coller, B. Glanzmann, M. Möller, C. Kinnear, C. Uren, M. Urban, M. Schoeman, M. Esser, R. Glashoff (South Africa)
235
LYMPHOCYTES SUBSETS AND T FOLICULAR LYMPHOCYTES IN PATIENTS WITH ACTIVATED PI3KΔ SYNDROME (APDS) H. Velasco, M.K.C. Brunialti, G. Segundo, F.L. Campinhos, E. Goudouris, O.A. Takano, J.T.L. Mazzucchelli, M.I. De Moraes Pinto, B.T. Costa-Carvalho (Brazil)
236
NOVEL COMPOUND HETEROZYGOUS IL7R MUTATIONS IN A 15 MONTHS OLD GIRL PRESENTING WITH NORMAL LYMPHOCYTE COUNT AND MARKED HYPERGAMMAGLOBULINEMIA P. Zangari, G. Di Matteo, C. Cifaldi, S. Di Cesare, D. Amodio, M. Chiriaco, F. Conti, N. Cotugno, M. De Luca, P. Palma, C. Cancrini, A. Finocchi (Italy)
237
THERAPY
Poster Board Number
CASE OF DELAYED PHLEBITIS-LIKE SKIN REACTION FOLLOWING INFUSION WITH SELECTED PRODUCTS OF INTRAVENOUS IMMUNOGLOBULIN, FOR IMMUNE DEFICIENCY ASSOCIATED WITH X-
238
LINKED AGAMMAGLOBULINAEMIA N. Al-Muhandis, R. Avison, B. Fish, J. Moor, S. Sholtysek, P. Gordins (United Kingdom)
SUCCESSFUL CYTOKINE THERAPY TREATMENT FOR CHRONIC SALMONELLA OSTEOMYELITIS AND CASTLEMAN DISEASES IN PATIENT WITH INTERLEUKIN-12P40 DEFICIENCY D. Alzahrani, M. ALOsaimi, M. Satti, W. Jastaniah (Saudi Arabia)
239
INFLIXIMAB THERAPY FOR STEROID REFRACTORY INFLAMATORY COLITIS IN AN INFANT WITH X-LINKED ANHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNODEFICIENCY H. Artac, A. Emsen, H. Ucaryilmaz, H.H. Emiroglu, V. Uygun, A. Stray-Pedersen, J. Orange (Turkey)
240
ETHICAL DILEMMAS IN THE CARE OF PEDIATRIC PATIENTS AND THEIR FAMILIES DIAGNOSED WITH FAMILIAL OR PRIMARY HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (HLH) I. Astigarraga Aguirre, S. Garcia-Obregón, J. De Pedro, J.L. Dapena, J.L. Fuster, A. Perez-Martinez, A. Sastre-Urgelles, L.M. Allende, B. Lopez-Ibor, S. Riesco, J. Gil-Herrera (Spain)
241
RETROSPECTIVE CHART ANALYSIS OF HUMAN HYALURONIDASE FACILITATED SUBCUTANEOUS IMMUNOGLOBULIN (FSCIG) USAGE IN PAEDIATRIC PATIENTS WITH PRIMARY OR SECONDARY IMMUNODEFICIENCIES (RAHPP) U. Baumann, N. Zessack, D. Pittrow, C. Hermann (Germany)
242
PHARMACOECONOMIC ANALYSIS OF INTRAVENOUS IMMUNOGLOBULINS (IVIGS) IN PRIMARY IMMUNODEFICIENCY DISORDERS (PIDS) IN RUSSIAN FEDERATION E. Beltyukov, A. Kulikov, D. Ugrekhelidze, I. Skorokhodov, V. Naumova (Russia)
243
EFFICACY OF JAK 1/2 INHIBITION IN TREATMENT-RESISTANT CHRONIC MUCOCUTANEOUS CANDIDIASIS M. Bloomfield, V. Kanderová, Z. Paračková, R. Zachová, M. Svatoň, E. Froňková, A. Šedivá (Czech Republic)
244
ERYTHROCYTE EXCHANGE TRANSFUSION AND HEMATOPOIETIC EARLY STEM CELL TRANSPLANTATION (HSCT) TO TREAT PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (PNP-SCID) IN 3 CHILDREN A. Boekstegers, H. Von Bernuth, A. Eichinger, S. Javeri, C. Dedieu, J.H. Schulte, U. Kölsch, S. Malvagia, G. La Marca, C. Klein, M.H. Albert, F. Hauck (Germany)
245
FACILITATED IMMUNOGLOBULIN ADMINISTRATION REGISTRY AND OUTCOMES STUDY (FIGARO): FIRST RESULTS M. Borte, L. Hanitsch, N. Mahlaoui, I. Quinti, D. Huscher, M. Speletas, M. Fasshauer, P. Panagiotidis, D. Pittrow (Germany)
246
REGISTRY TO COLLECT LONG TERM SAFETY DATA FROM PREGNANT WOMEN TREATED WITH RECOMBINANT HUMAN HYALURONIDASE (RHUPH20)-FACILITATED SUBCUTANEOUS IMMUNOGLOBULIN (FSCIG) M. Borte, S. Raffac, M. Hrubisko, K. Jahnz-Rozyk, M. Cvackova, H. Leibl, L. Yel (Germany)
247
IS IT SAFE TO SWITCH FROM IVIG TO SCIG IN PATIENTS WITH CVID AND AITP? N. Camacho-Ordonez, P. Scheuerlein, L. Pietsch, V. Reiser, S. Patel, S.O. Burns, K. Warnatz, B. Grimbacher (Germany)
248
POTENTIAL THERAPEUTIC TARGET FOR MALNUTRITION C. Carvalho Dias, J. Soares de Oliveira Beltran, E.W. Cavalcante Oliveira Santos, A. Nogueira-Pedro, A. Miranda, E. Julian Paredes-Gamero, R. Ambrosio Fock (Brazil)
249
TIME TO DIAGNOSIS, MANAGEMENT AND OUTCOME OF CHILDREN DIAGNOSED WITH SEVERE COMBINED IMMUNODEFICIENCY IN MELBOURNE, AUSTRALIA FROM 2008-2017 H. Johnson, B. Van Dort, S. Richards, J. Smart, S. Choo, T. Cole (Australia)
250
HSCT FAILURE IN A CHILD WITH CHRONIC GRANULOMATOUS DISEASE L. Cunha, Y. Kashiwabara, F. Cruz, J. Fernandes, F. Santos, R. Souza, J. Pinto (Brazil)
251
PRELIMINARY EVALUATION OF EFFICACY AND SAFETY OF INTRAVENOUS IMMUNOGLOBULIN IN RITUXIMAB ASSOCIATED SECONDARY ANTIBODY DEFICIENCY IN AUTOIMMUNE DISEASES M. Di Natale, E. Sarmiento, M.A. Mejia, J. Gil, J. Navarro, S. Padure, E. Fernandez-Cruz, F.J. Lopez Longo, J. Carbone (Spain)
252
ALLOGENEIC HEMATOPOIETIC CELL TRANSPLANTATION IN TWO ADULTS WITH IL2RG DEFICIENCY D. Dimitrova, A. Lisco, L.D. Notarangelo, K.N. Olivier, H.L. Malech, A.P. Hsu, H. Kuehn, J. Niemela, J. Rose, S.M. Holland, S.D. Rosenzweig, I. Sereti, M. Anderson, E. Carroll, S.N. Hicks, C.G. Kanakry, J.A. Kanakry (USA)
253
LEUKOCYTE ADHESION DEFICIENCY: CLINICAL FEATURES, TREATMENT AND FOLLOW-UP S. Köstel Bal, S. Haskologlu, C. Islamoglu, C. Aytekin, A. Yıldıran, M. Yüksek, Z. Şıklar, F. Dogu, A. Ikinciogullari (Turkey)
254
REGULATORY T-LYMPHOCYTE INVOLVEMENT DURING EXTRACORPOREAL PHOTOPHORESIS TREATMENT FOR ACUTE GRAFT-VERSUS-HOST-DISEASE A. Ehrlich, A. Flinn, X. Nong-Wang, A. Gennery (United Kingdom)
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INTERIM ANALYSIS OF A POSTAUTHORIZATION SAFETY STUDY ON THE LONG TERM SAFETY OF HYALURONIDASE-FACILITATED SUBCUTANEOUS IMMUNOGLOBULIN 10% IN PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISEASES IN EUROPE
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P.M. Ellerbroek, P. Van Paassen, L. Hanitsch, A. Plebani, R.E. Schmidt, P.M. Van Hagen, P. Wang, K. Fielhauer, H. Leibl, L. Yel (Netherlands Antilles)
ELEMENTAL DIET ALTERED THE MICROBIOTA AND IMPROVED INFLAMMATORY BOWEL DISEASE IN A PATIENT WITH CHRONIC GRANULOMATOUS DISEASE E.L. Falcone, Y. Han, S. Kreuzburg, A. Rump, L. Foruraghi, T. Heller, J.A. Church, C. Deming, J.A. Segre, S.M. Holland, C.S. Zerbe (USA)
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STRUCTURED PATIENT EDUCATION PROGRAMME FOR PATIENTS WITH PRIMARY IMMUNODEFICIENCY (PIDS-PROGRAMME) – EXPERIENCES OVER 10 YEARS IN GERMANY M. Fasshauer, H. Von Bernuth, N. Gebert, S. Goldacker, R. Krueger, P. Manzey, G. Notheis, H. Ritterbusch, U. Schauer, S. Schlieben, G. Schuermann, I. Schulze, V. Umlauf, U. Baumann (Germany)
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ADVERSE REACTIONS TO INTRAVENOUS IMMUNOGLUBULIN FOR THE TREATMENT OF PATIENTS WITH PRIMARY IMMUNODEFICIENCY C. Ferreira, J. Lopes, A. Guilherme, I. Lopes (Portugal)
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THYMOPOIETIC RECOVERY IN A PAEDIATRIC COHORT WITH ACUTE GVHD - THE EFFECT OF EXTRACORPOREAL PHOTOPHERESIS A. Flinn, X.N. Wang, A.R. Gennery (United Kingdom)
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CD27 DEFICIENCY – WHAT IS THE BEST TIME FOR HSCT ? S. Ghosh, F. Schuster, F. Babor, O. Kyrillopoulou, K. Lehmberg, J. Neubert, P. Oommen, M. Paulussen, A. Borkhardt, R. Meisel (Germany)
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USE OF INTRAVENOUS IMMUNOGLOBULINS (5% AND 10%) FOR THE TREATMENT OF PATIENTS WITH PRIMARY OR SECONDARY ANTIBODY DEFICIENCIES –AN INTERIM ANALYSIS OF A NON-INTERVENTIONAL STUDY A. Habier, M. Jansen, C. Lietz, U. Muenster (Germany)
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A SCID COHORT TREATED WITH HSCT: CLINICAL FEATURES AND OUTCOME F. Dogu, S. Haskologlu, O. Bayram, S. Bal, C. Islamoglu, T. Kendirli, A. Ikinciogulları (Turkey)
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CASE SERIES OF PATIENTS WITH PRIMARY IMMUNODEFICIENCY DISORDERS AND IMPROVEMENT IN WARTS WITH SUBCUTANEOUS IMMUNOGLOBULIN V. Hernandez-Trujillo, W. Blouin, J. Calderon (USA)
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IMMUNOLOGY FOLOW-UP AFTER RITUXIMAB TREATMENT IN PEDIATRIC NON HODGKIN LYMPHOMA E. Hlavackova, Z. Krenova, J. Nechvatalova, J. Sterba, J. Litzman (Czech Republic)
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TOLERABILITY OF HIGH INFUSION RATES (60 ML/H/SITE) AND VOLUMES (60 ML/SITE) IN PATIENTS TREATED WITH SUBCUTANEOUS IMMUNE GLOBULIN 20% (IG20GLY) ACCORDING TO PRESTUDY ADMINISTRATION ROUTE I. Hussain, K. Paris, S. Gupta, M. Stein, L. Kobrynski, P. Wang, B. McCoy, L. Yel (USA)
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SIMULTANEOUS TREATMENT WITH TNF INHIBITOR AND IVIG IN A PATIENT WITH PRIMARY IMMUNODEFICIENCY AND AUTOIMMUNITY: A TREATMENT CONUNDRUM N. Cekada, M. Sestan, M. Frkovic, J. Kelecic, M. Jelusic (Croatia)
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CUTANEOUS GRANULOMAS AND RESPONSE TO IMMUNOGLOBULIN REPLACEMENT TREATMENT IN COMMON VARIABLE IMMUNODEFICIENCY (CVID) F. Kalala, E.C. Vervessou, I. Papamargariti, A. Koutsi, M. Speletas (Greece)
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IS PIOGLITAZONE THERAPY BENEFICIAL IN CHRONIC GRANULOMATOUS DISEASE WITH ANAL ABSCESS? N. Kasap, A. Kiykim, S. Baris, A. Ozen, E. Karakoc-Aydıner (Turkey)
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COADMINISTRATION OF THALIDOMIDE AMELIORATES INFLAMMATORY BOWEL DISEASE ASSOCIATED WITH CHRONIC GRANULOMATOUS DISEASE T. Kawai, K. Arai, T. Ishikawa, E. Tamura, T. Uchiyama, O. Masafumi (Japan)
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THIRD-PARTY T CELL IMMUNOTHERAPY FOR VIRAL INFECTIONS IN PRIMARY IMMUNODEFICIENCY DISORDERS M. Keller, P. Hanley, H. Lang, G. Sani, B. O'Brien, J. Tanna, R. Ulrey, N. Zhang, A. Abraham, B. Davila, K. Williams, R. Adams, J. Leiding, J. Heimall, C. Bollard (USA)
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DIVERSITY OF CANCERS IN PRIMARY IMMUNE DEFICIENCIES; HARD TO DEFINE, HARD TO TREAT A. Kiykim, N. Eker, O. Surekli, E. Nain, N. Kasap, H. Akturk, A. Canbolat, A. Somer, G. Tokuc, E. Karakoc-Aydiner, A. Ozen, S. Baris (Turkey)
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LOW LEVEL DONOR T-CELL CHIMAERISM IN TWO PATIENTS WITH COMPLETE DIGEORGE SYNDROME AFTER THYMIC TRANSPLANTATION A. Klocperk, G. Dueckers, E. Jacobsen, M. Hoenig, S. Adams, A. Worth, T. Niehus, A. Šedivá, E.G. Davies (Czech Republic)
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RUXOLITINIB TREATMENT ALTERS THE EXPRESSION OF STAT1-DEPENDENT GENES, RECONSTITUTES IMMUNGLOBULIN PRODUCTION AND FACILITATES WEIGHT GAIN IN A BOY WITH A STAT1 GAIN-OF-FUNCTION MUTATION R. Kobbe, M. Kolster, U. Schulze-Sturm, J. Staab, E. Tolosa, B. Grimbacher, T. Meyer (Germany)
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EFFICACY, SAFETY AND TOLERABILITY OF A 10% INTRAVENOUS IMMUNOGLOBULIN –PRIVIGEN IN REAL-LIFE PRACTICE. E. Latysheva, T. Latysheva, I. Manto, L. Hludova (Russia)
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RETROSPECTIVE OBSERVATIONAL STUDY TO ASSESS THE EFFICACY AND SAFETY OF KEDRION IVIG 5% IN PAEDIATRIC PATIENTS AFFECTED BY PRIMARY IMMUNODEFICIENCY (PID) F. Lippi, C. Canessa, S. Ricci, C. Guarnieri, R. Macchia, I. Marjanovic, C. Azzari (Italy)
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EFFICACY AND SAFETY OF INTERFERON GAMMA IN CHRONIC GRANULOMATOUS DISEASE: A SYSTEMATIC REVIEW AND META-ANALYSIS S. Lugo Reyes, A. Gonzalez-Garay, N.Y. Gonzalez-Bobadilla, D. Rivera-Lizárraga, A. Madrigal-Paz, E.A. Medina Torres, A. Alvarez-Carmona, S.E. Espinosa Padilla, C. Solis Galicia, C. Murata (Mexico)
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SUBCUTANEOUS IMMUNOGLOBULIN INFUSIONS IN VERY YOUNG CHILDREN WITH PRIMARY IMMUNODEFICIENCY; USE AND EFFICACY K.M. Lundeby, T. Overland, K. Halvorsen, M. Hoff, T.G. Abrahamsen, H.C. Erichsen (Norway)
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IMPROVING PATIENTS SUBCUTANEOUS IMMUNOGLOBULIN (SCIG) TREATMENTS THROUGH THE RIGHT SELECTION OF INFUSION DEVICE TECHNOLOGY F. Ma, A. Sealfon, P.M. Baker (USA)
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IN UTERO STEM CELL TRANSPLANTATION IN A X-LINKED SEVERE COMBINED IMMUNODEFICIENCY FETUS: INSIGHTS INTO VERY EARLY IMMUNOLOGICAL RECONSTITUTION A. Magnani, J.M. Jouannic, J. Rosain, A. Gabrion, F. Touzot, C. Roudaut, S. Kracker, N. Mahlaoui, A. Toubert, E. Clave, E. Macintyre, M. Alcantara, I. Radford-Weiss, E. Magrin, B. Ternaux, J. Nisoy, L. Caccavelli, A.M. Darras, C. Picard, S. Blanche, M. Cavazzana (France)
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SUCCESSFUL HAPLOIDENTICAL HSCT WITH POST TRANSPLANTATION CYCLOPHOSPHAMIDE FOR A CRITICALLY CHILD CGD PATIENT PRESENTING WITH RAPIDLY PROGRESSIVE IBD N. Marcus, S. Jerry, B. Wolach, R. Gavrieli, A. Yahel (Israel)
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HIGH-DOSE SCIGFH SELF-ADMINISTRATION TRAINING M. Martin (Spain)
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MANUAL PUSH IMMUNOGLOBULIN G REPLACEMENT THERAPY IN ADULT AND PAEDIATRIC PATIENTS AFFECTED BY PRIMARY IMMUNODEFICIENCY DISEASE: PROTOCOL OF A PROSPECTIVE STUDY A. Matucci, S. Ricci, C. Canessa, F. Lippi, A. Vultaggio (Italy)
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BIWEEKLY SUBCUTANEOUS IMMUNOGLOBULINS INFUSION (HIZENTRA®) IN PATIENTS WITH PRIMARY IMMUNODEFICIENCIES: TREATMENT EXPOSURE AND INFUSION PARAMETERS DURING THE ITALIAN IBIS STUDY A. Vultaggio, A. Matucci, C. Azzari, S. Ricci, B. Martire, V. Palladino, V. Gallo, A. Pecoraro, C. Pignata, G. Spadaro, S. Graziani, V. Moschese, A. Trizzino, G.M. Boggia (Italy)
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TREATMENT OF A FEMALE PATIENT WITH HYPOGAMMAGLOBULINEMIA, EVANS SYNDROME, MASSIVE SPLENOMEGALY AND AN EXPANDED POPULATION OF TFH CELLS WITH ABATACEPT D. Mcdonald, H. Niebur, L.M. Charbonnier, T. Chatila (USA)
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BARICITINIB TREATMENT IN AICARDI-GOUTIÈRES SYNDROME K. Meesilpavikkai, W.A. Dik, B. Schrijver, C.G. Van Helden-Meeuwsen, M.A. Versnel, E.K. Bijlsma, P.M. Van Hagen, V.A.S.H. Dalm (The Netherlands)
286
DOSAGE INCREASE OF INTRAVENOUS IMMUNOGLOBULINE DURING PREGNANCY IN A PATIENT WITH COMMON VARIABLE IMMUNODEFICIENCY. CASE REPORT. L.D. Mendoza Reyna, S. García Lara, B. Chávez García (Mexico)
287
RECOMBINANT HYPERIMMUNE GAMMAGLOBULIN FOR RECURRENT BACTERIAL INFECTIONS IN PRIMARY IMMUNE DEFICIENCY R. Mizrahi, A. Adler, S. Keating, D. Johnson (USA)
288
SUCCESSFUL BONE MARROW TRANSPLANTATION USING AN IMMUNOMYELOSUPPRESSIVE CONDITIONING IN PATIENTS WITH SEVERE CONGENITAL NEUTROPENIA: A SINGLE-INSTITUTE EXPERIENCE S. Nishimura, Y. Mizoguchi, T. Asano, M. Miki, A. Furue, H. Kawaguchi, S. Okada, S. Mochizuki, T. Doi, M. Kobayashi (Japan)
289
SUCCESSFUL TREATMENT OF A PATIENT WITH HEREDITARY ANGIOEDEMA USING SUBCUTANOUS C1 INHIBITOR CONCENTRATE S. Noorani (United Kingdom)
290
THE CLINICAL OPTIONS IN LATE THERAPEUTIC FAILURES IN SCID: FROM THE FETUS TO THE YOUNG ADULT F. Porta, L.D. Notarangelo, E. Soncini, G. Carracchia, A. Beghin, M. Comini, R. Baffelli, A. Lanfranchi (Italy)
291
CYTOMEGALOVIRUS INFECTION AFTER HEMATOPOEITIC STEM CELL TRANSPLANTATION FOR PRIMARY IMMUNODEFICIENCIES M. Ouederni, W. Toueiti, M. Ben Khaled, S. Rekaya, R. Kouki, F. Mellouli, M. Bejaoui (Tunisia)
292
HAPLOIDENTICAL HEMATOPOTIC STEM CELL TRANSPLANTATION USING T-CELL REPLETE GRAFT AND POST-TRANSPLANT CYCLOPHOSPHAMIDE IN PATIENTS WITH SEVERE COMBINED IMMUNE
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DEFICIENCY (SCID) M. Ouederni, O. Ben Zayed, M. Ben Khaled, S. Rekaya, R. Kouki, F. Mellouli, M. Bejaoui (Tunisia)
TOLERABILITY AND ONBOARDING EXPERIENCE WITH SUBCUTANEOUS HUMAN IMMUNE GLOBULIN 20% (IG20GLY) INFUSED AT HIGH RATES AND VOLUMES IN PEDIATRIC PATIENTS WITH PRIMARY IMMUNODEFICIENCY K. Paris, I. Hussain, S. Gupta, P. Wang, H. Leibl, B. McCoy, L. Yel (USA)
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A CASE OF GIANT CELL HEPATITIS WITH AUTOIMMUNE HAEMOLYTIC ANEMIA RELATED TO STAT3 GAIN-OF-FUNCTION: REGRESSION OF HEPATIC FIBROSIS AND DIFFUSE ARTHRALGIA UNDER TOCILIZUMAB TREATMENT L. Kollen, F. Rieux Laucat, B. Neven, P. Cougoul, K. Barange, D. Debray, P. Broue, M. Pasquet (France)
295
SENEQA: STUDY ON THE UTILISATION OF FSCIG (10% NORMAL IMMUNOGLOBULIN AND RECOMBINANT HUMAN HYALURONIDASE) IN ELDERLY PATIENTS P. Van Paassen, D. Pittrow, C. Scheidegger, N. Storch, J. Klotsche, P. Ellerbroek (Germany)
296
BI-WEEKLY 20%-SUBCUTANEOUS IMMUNOGLOBULIN (HIZENTRA®) INFUSION IN PATIENTS WITH COMMON VARIABLE IMMUNODEFICIENCY: PRIMARY ENDPOINTS IN THE CVID SUBCOHORT OF THE IBIS STUDY S. Ricci, A. Vultaggio, A. Matucci, C. Azzari, B. Martire, V. Palladino, V. Gallo, A. Pecoraro, C. Pignata, G. Spadaro, S. Graziani, V. Moschese, A. Trizzino, G.M. Boggia (Italy)
297
BLEEDING AND SPLENECTOMY IN WISKOTT ALDRICH SYNDROME L. Rivers, A. Worth, A.J. Thrasher, S. Burns (United Kingdom)
298
CHRONIC MENINGOENCEPHALITIS IN XLA. (WHEN) SHOULD HSCT BE ADDRESSED? A.P. Rocha, M. Borges, A. Cordeiro, C. Neves, J. Farela Neves (Portugal)
299
CASE OF SYSTEMIC HUMAN HERPES VIRUS – 6 INFECTION AFTER HEMATOPOIETIC STEM CELL TRANSPLANTATION IN A PATIENT WITH OMENN SYNDROME. A. Laberko, Y. Rodina, R. Pirumova, D. Abramov, D. Balashov, A. Shcherbina (Russia)
300
RAPID PUSH: NEW OPPORTUNITIES IN SUBCUTANEOUS IMMUNOGLOBULIN (SCIG) THERAPY FOR CHILDREN WITH PID (EXPERIENCE WITH GAMUNEX-C PREPARATION). Y. Rodina, E. Deripapa, V. Burlakov, N. Kuzmenko, A. Shcherbina (Russia)
301
AN OPEN-LABEL MULTICENTER STUDY OF THE TOLERABILITY OF HIGHER THAN CURRENT INFUSION PARAMETERS OF THE 20% SUBCUTANEOUS IMMUNOGLOBULIN IGPRO20 IN PRIMARY IMMUNODEFICIENCY: THE HILO STUDY M. Rojavin, M. Praus (USA)
302
SERUM IMMUNOGLOBULIN TROUGH LEVELS FOLLOWING SWITCH FROM INTRAVENOUS TO SUBCUTANEOUS IMMUNOGLOBULIN REPLACEMENT THERAPY AT EQUAL DOSE: DATA FROM EUROPEAN AND JAPANESE TRIALS M. Rojavin, J. Neufang-Hueber, M. Praus, A. Hubsch (USA)
303
REAL WORLD US COSTS OF TREATING PIDD WITH IV AND SC IMMUNOGLOBULINS M.C. Runken, S. Whitmire, J.M. Noone, C.M. Blanchette, E. Zacherle, R. Howden (USA)
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REAL WORLD INFECTIONS ASSOCIATED WITH ROUTES OF ADMINISTRATION IN PRIMARY IMMUNE DEFICIENCY TREATMENT M.C. Runken, J.M. Noone, C.M. Blanchette, S. Whitmire, E. Zacherle, R. Howden (USA)
305
IMMUNOGLOBULIN REPLACEMENT THERAPY IN SOLID ORGAN TRANSPLANTATION WITH SECONDARY IMMUNEDEFICIENCY (SID): PROOF OF CONCEPT E. Sarmiento, M.L. Rodriguez-Ferrero, E. Zatarain, M. Salcedo, M. Romero, A. Fernandez-Yunquera, M. Valerio, M. Olmedo, P. Navas, I. Sousa-Casasnovas, J. Carbone (Spain)
306
ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION FOR INVASIVE DERMATOPHYTOSIS DUE TO CARD9 DEFICIENCY T. Mercier, L. Coorevits, J.C. Goffard, S. Henrard, J. Maertens, R. Schrijvers (Belgium)
307
HEMATOPOIETIC STEM CELL TRANSPLANTATION FOR VPS45 DEFICIENCY B. Shadur, N. Asherie, E. Even Or, I. Zaidman, A. NaserEddin, P. Stepensky (Israel)
308
SUBCUTANEOUS IMMUNOGLOBULINS IN PATIENTS WITH MULTIPLE MYELOMA AND SECONDARY HYPOGAMMAGLOBULINEMIA: A RANDOMIZED TRIAL A. Vacca, A. Melaccio, A. Sportelli, A. Solimando, F. Dammacco, R. Ria (Italy)
309
CASE REPORT: ACQUIRED SKIN VASCULAR LESIONS IN AN IMMUNOCOMPROMISED CHILD: NOT ALWAYS INFECTIOUS. A. Tilmanne, S. Gatineau-Sailliant, A. Danby, E. Haddad, Y. Pastore, M.L. Cossio, C. McCuiag, V. Kokta, B. Tapiero (Canada)
310
EARLY IGG RECONSTITUTION FOLLOWING STEM CELL TRANSPLANTATION FOR PRE-B-ALL IN A PATIENT WITH X-LINKED AGAMMAGLOBULINEMIA M. Van Zelm, M. Pumar, A. Grigg, P. Shuttleworth, P. Aui, J. Smart, J. Bosco (Australia)
311
RAPID PUSH INFUSION - A WELL-TOLERATED, COST-EFFECTIVE METHOD FOR SUBCUTANEOUS SELF-INJECTIONS OF GAMMANORM®: A RANDOMIZED NON-INFERIORITY CROSS-OVER TRIAL IN ADULT PATIENTS WITH PRIMARY IMMUNODEFICIENCIES
312
K. Warnatz, S. Jolles, C. Agostini, M. Borte, C. Bethune, S. Grigoriadou, A. Richter, R. Jain, D. Lowe, C. Katelaris, C. Milito, A.B. Taumberger, M. Cook (Germany)
RECOMMENDATIONS FOR THE MANAGEMENT OF SECONDARY HYPOGAMMAGLOBULINEMIA DUE TO B-CELL TARGETED THERAPIES IN AUTOIMMUNE RHEUMATIC DISEASES S. Wijetilleka, D. Jayne, C. Mukhtyar, A. Ala, P. Bright, H. Chinoy, L. Harper, M. Kazmi, S. Kiani-Alikhan, C. Li, S. Misbah, L. Oni, F. Price-Kuehne, A. Salama, S. Workman, D. Wrench, M.Y. Karim (United Kingdom)
313
IMMUNOGLOBULIN REPLACEMENT THERAPY IN THE MANAGEMENT OF SECONDARY ANTIBODY DEFICIENCY ASSOCIATED WITH B-CELL TARGETED THERAPIES IN AUTOIMMUNE RHEUMATIC DISEASE: SYSTEMATIC LITERATURE REVIEW S. Wijetilleka, C. Mukhtyar, D. Jayne, A. Ala, P. Bright, H. Chinoy, L. Harper, K. Kazmi, S. Kiani-Alikhan, C. Li, S. Misbah, L. Oni, F. Price-Kuehne, A. Salama, S. Workman, D. Wrench, M.Y. Karim (United Kingdom)
314
TARGETED DELIVERY OF CURCUMIN RESCUES ER-RETAINED MUTANT NOX2 PROTEIN AND AVOIDS LEUKOCYTE APOPTOSIS C.L. Yen, Y.C. Liao, R.F. Chen, Y.F. Huang, W.C. Chung, P.C. Lo, C.F. Chang, P.C. Wu, D.B. Shieh, S.T. Jiang, C.C. Shieh (Taiwan R.O.C.)
315
AUTOSOMAL DOMINANT IFNGR1 WITH ACTIVE DISSEMINATED NONTUBERCULOUS MYCOBACTERIAL INFECTION: SUCCESSFUL MATCHED RELATED DONOR HEMATOPOIETIC STEM CELL TRANSPLANTATION C. Zerbe, J. Gea-Banacloche, S. Kreuzburg, A. Rump, D. Dimitrova, S. Holland, J. Kanakry (USA)
316
ANAKINRA AS A SALVAGE TREATMENT FOR A SEVERE REFRACTORY CHRONIC GRANULOMATOUS DISEASE M. Serbes, D. Doğruel, A.Ş. Sasihuseyinoğlu, M. Yılmaz, D.U. Altıntaş (Turkey)
317
THE USE OF OMALIZUMAB FOR DERMATOLOGIC MANIFESTATIONS OF HYPER-IGE SYNDROME – A CASE REPORT J. Miranda, N. Gomes, L. Leão, T. Baudrier, J. Torres Costa (Portugal)
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