primary immunodeficiency in iran - iacld.ir · primary immunodeficiency (pid) 1-no human being can...
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Primary immunodeficiency in Iran
Asghar Aghamohammadi MD, PhDResearch Center for Immunodeficiencies
Children Medical Center HospitalTehran University of Medial Sciences
Tehran University of Medical Sciences (TUMS), Iran
Research Center for Immunodeficiency
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Primary immunodeficiency (PID)
1-No human being can survive without a functioning of immune system
Primary immunodeficiency (PID)
1 No human being can survive without a functioning of immune system.
2-Defects in immune system development and/or function regulate in PID
3-PIDs are much more common than originally appreciated
4-Clinical features of PID Recurrent and chronic infections
Autoinflammation,
Autoimmunity,
MalignancyMalignancy,
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disorders have been describedPIDs300 more than 2016 -1926uring D
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Estimation of the frequency of PADs worldwidePADs is the most common type of group of PIDPADs is the most common type of group of PID
Antibody deficiencies account for 50 to 60% of all PID
An incidence of 10.3/100,000 PID person yearsy
3- Joshi AY, Iyer VN, Hagan JB, Sauver JLS, Boyce TG. Incidence and temporal trends of primary immunodeficiency: a population based cohort study. Mayo Clin Proc. 2009;84(1):16–22.
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Iranian Primary Immunodeficiency Registry (IPIDR)
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Consanguineous marriage in the Middle East Consanguineous marriages is a common feature of the family systems in• Consanguineous marriages is a common feature of the family systems in
the Middle East
• Its rate varies from 20% to more than 60% in the Middle East
• The mean proportion of consanguineous marriages in Iran is 39% .
• This rate among PID patients is higher is around 67%.
Traditional belief says that marriage agreement between cousins hasbetween cousins has been made in sky.
Al‐Gazali L, Hamamy H, Al‐Arrayad S: Genetic disorders in the Arab world.BMJ. 2006 Oct 21;333(7573):831‐4.
Asghar Aghamohammadi, Tehran University of Medical Sciences, Tehran, Iran
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Overview of B-cell defects causing antibody deficiency
Abolhassani H, Parvaneh N, Rezaei N, Hammarström L, Aghamohammadi A : Genetic defects in B‐cell development and their clinical consequences. J Investig Allergol Clin Immunol. 2014;24(1):6‐22;
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Overview of B-cell defects causing antibody deficiencyOverview of B cell defects causing antibody deficiency
Abolhassani H, Parvaneh N, Rezaei N, Hammarström L, Aghamohammadi A : Genetic defects in B‐cell development and their clinical consequences. J Investig Allergol Clin Immunol. 2014;24(1):6‐22;
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Overview of B-cell defects causing antibody deficiency
Abolhassani H, Parvaneh N, Rezaei N, Hammarström L, Aghamohammadi A : Genetic defects in B‐cell development and their clinical consequences. J Investig Allergol Clin Immunol. 2014;24(1):6‐22;
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Historical overview: Identification of genetic defects in PAD (1990 -2013).
ICOS, TACI, CD19, BAFFR, CD81, CD20, CD21, LRBA and more recently IKAROS
ICOS, TACI, CD19, BAFFR, CD81, CD20, CD21, NFKB, PKC3D and more recently IKAROS
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Clinical manifestation and organ system affected in PAD
Asghar Aghamohammadi M.D : Research Center for Immunodeficiency Tehran University of Medical Sciences (TUMS), Iran
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Clinical presentation of patients
4 years old boy with following historyRecurrent and severe infections Pnemonia (4 times) sinusitis (3 times) Otitis media (5 times)Gastrointestinal infections absence of tonsils
WBC: 8000/mm , PMN: 40% Lymph: 58% Hb:13 , platlet: 400.0001 CBC
IgG: 200 mg/dl IgA: 7 mg/dl IgM: 10 mg/dl
1‐CBC
2‐ Igs
3 Sp.An Anti Teta absent , Anti Diph : absent i
3 B&T WBC:800 /mm Lymph :58% CD3: 75% CD4: 45% CD8% CD19: 0.1% CD16:15
Diag X‐ Linked Agammagobuinemia (BTK) AR Agammagobuinemia –(5 genes )Diag X Linked Agammagobuinemia (BTK) AR Agammagobuinemia (5 genes )
Confirmation Mutation analysis
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. The frequency of diagnosed PID cases in Asia, Australia and Africa
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Important points in PID that resulted in the launch World PI week
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All these facts pushed to patients families doctorsAll these facts pushed to patients, families, doctors, nurses, patients come together to raise awareness of PID
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WPIW Started in 2011
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٢٠١۶اقدامات مھم ھفته جھانی نقص ايمنی در سال م
افزايش سطح آگاھی مردم و جامعه •
تھيه و توضيح پمفلت در زمينه بيماری ھای نقص ايمنی به زبان ساده برای مردم–الف نصب چندين بيلبورد آگاھی دھنده در زمينه بيماری ھای نقص ايمنی در شھر تھران ‐ب تھيه و تکثير تمبر پستی بمنظور گراميداشت ھفته جھانی نقص ايمنی–ج کشور• خارج و داخل ايمونولوژی متخصصين حضور با ايمنی نقص کنفرانس وربرگزاری رج ل و وژی و و ي ين ور ی ب ي ص س ر ری ز بر برنامه ريزی در خصوص راه اندازی شبکه تشخيص و درمان نقص ايمنی در ايران•
ال ق ط ث ش راه اندازی روش ثبت بيماران به طريقه انالين•
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Planning for World Primary Immunodeficiency Week In 2016
Doctors' awareness concerning PID:Organizing 8th Conference on PID
Public awareness of Primary Immunodeficiencies.
Preparation and distribution of pamphlets in the field of PID
Through the billboards in urban areas
Design and print postage stamp in the field of immunodeficiency
Establishment of Iranian Primary Immunodeficiency Network
To lunch online registration of PID patients in PID Registry (IPIDR)
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٢٠١۶ھفته جھانی سال گزارش فعاليت آموزشی در زمينه نقص ايمنی در
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Increasing awareness of Public and PID families
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The global organization working to improve the quality of life for people with PID
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Asghar A
of Medic Agham
ohamm
cal Sciences, T adi, Tehran U
nTehran, Iran
iversity
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٢٠١۶اقدامات مھم ھفته جھانی نقص ايمنی در سال م
افزايش سطح آگاھی مردم و جامعه •
تھيه و توضيح پمفلت در زمينه بيماری ھای نقص ايمنی به زبان ساده برای مردم–الف نصب چندين بيلبورد آگاھی دھنده در زمينه بيماری ھای نقص ايمنی در شھر تھران ‐ب تھيه و تکثير تمبر پستی بمنظور گراميداشت ھفته جھانی نقص ايمنی–ج کشور• خارج و داخل ايمونولوژی متخصصين حضور با ايمنی نقص کنفرانس وربرگزاری رج ل و وژی و و ي ين ور ی ب ي ص س ر ری ز بر برنامه ريزی در خصوص راه اندازی شبکه تشخيص و درمان نقص ايمنی در ايران•
ال ق ط ث ش راه اندازی روش ثبت بيماران به طريقه انالين•
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Sponsorship for 8th ICID f P i8th ICID conference on Primary
Immunodeficiency (PID )
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٢٠١۶اقدامات مھم ھفته جھانی نقص ايمنی در سال م
افزايش سطح آگاھی مردم و جامعه •
تھيه و توضيح پمفلت در زمينه بيماری ھای نقص ايمنی به زبان ساده برای مردم–الف نصب چندين بيلبورد آگاھی دھنده در زمينه بيماری ھای نقص ايمنی در شھر تھران ‐ب تھيه و تکثير تمبر پستی بمنظور گراميداشت ھفته جھانی نقص ايمنی–ج کشور• خارج و داخل ايمونولوژی متخصصين حضور با ايمنی نقص کنفرانس وربرگزاری رج ل و وژی و و ي ين ور ی ب ي ص س ر ری ز بر برنامه ريزی در خصوص راه اندازی شبکه تشخيص و درمان نقص ايمنی در ايران•
ال ق ط ث ش راه اندازی روش ثبت بيماران به طريقه انالين•
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Establishment of Iranian Primary Immunodeficieny Network
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Missions and Visions of PID network
1- To increase the awareness about PID among physicians, patients and public
2- To improve the diagnostic facilities in peripheral centers
3-To modify the method of referring patients to the third level center
4- To promote and develop the national PID patients’ registry
5- To increment the relation with health policy makers in ministry of health
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Organization of the national PID network
Founding board.
Board of Trustees for PID networkBoard of Trustees for PID network from different medical universities of the country
Steering committee
CEO and Deputies
Executive committees
Publications Treatment and Standard G ti f I H l C ll land
Management of Patients
Standard Guidelines
preparation
Genetic of PID
Innate immunity
HumoralImmunity
CellularImmunity
National registry
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٢٠١۶اقدامات مھم ھفته جھانی نقص ايمنی در سال م
افزايش سطح آگاھی مردم و جامعه •
تھيه و توضيح پمفلت در زمينه بيماری ھای نقص ايمنی به زبان ساده برای مردم–الف نصب چندين بيلبورد آگاھی دھنده در زمينه بيماری ھای نقص ايمنی در شھر تھران ‐ب تھيه و تکثير تمبر پستی بمنظور گراميداشت ھفته جھانی نقص ايمنی–ج کشور• خارج و داخل ايمونولوژی متخصصين حضور با ايمنی نقص کنفرانس وربرگزاری رج ل و وژی و و ي ين ور ی ب ي ص س ر ری ز بر برنامه ريزی در خصوص راه اندازی شبکه تشخيص و درمان نقص ايمنی در ايران•
ال ق ط ث ش راه اندازی روش ثبت بيماران به طريقه انالين•
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For More information and reading materials
Rezaei N, Aghamohammadi A, Notarangelo LD. Primary immunodeficiency diseases: definition, diagnosis and management. © Springer 2008
Aghamohammadi A, Rezaei N.Clinical Cases in Primary Immunodeficiency Diseases: A Problem-Solving Approach. Springer 2013
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Thanks for your attention