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Primary Immune Deficiencies (PIDs) Definition - Genetic defects that affect development and/or function of the immune system - Over 130 distinct forms.

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Presentation on theme: "Primary Immune Deficiencies (PIDs) Definition - Genetic defects that affect development and/or function of the immune system - Over 130 distinct forms."— Presentation transcript:

1 Primary Immune Deficiencies (PIDs) Definition - Genetic defects that affect development and/or function of the immune system - Over 130 distinct forms of PIDs are known (IUIS PIDs Classification, 2007) Incidence - 1/10,000, but higher in areas with increased consanguinity - Recent data suggest that incidence of PIDs may be much higher than previously anticipated (susceptibility to severe infections).

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4 Primary Immune Deficiencies (PIDs): importance and social impact Importance - increased susceptibility to: - severe and recurrent infections - malignancy - autoimmunity Social impact - high mortality and morbidity rate - development of multiorgan chronic complications - costly use of health care resources Accurate diagnosis is essential for proper treatment and for genetic counseling

5 antibody deficiencies (55.4%) combined immunodeficiencies (10.6%) innate immunity defects (13%) complement defects (1.8%) Immunodysregulation disorders (1.2%) Complex PID syndromes (18%) The distribution of PIDs* *data on 6,020 patients with PID. ESID, 2008

6 PIDs in the Middle East: special considerations higher prevalence rate (consanguinity) delayed recognition inadequate support to provide molecular diagnosis difficulties in providing optimal treatment PIDs represent a significant Public Health issue for Middle East countries

7 PIDs in the Middle East: Opportunities for research Increased number of patients with autosomal recessive PIDs Patients with unique phenotypes Identification of novel PID genes

8 Novel PID genes identified through the study of patients from the Middle East Ataxia-telangiectasia CD40L deficiency CD40 deficiency AID deficiency SCID due to JAK3 deficiency  heavy chain defect Ig  chain deficiency VODI (veno-occlusive disease with immunodef.) Familial mycobacteriosis due to defects in the IL-12/IL-12R/INF-  /INF-  R/STAT1 axis HLH due to syntaxin 11 deficiency

9 Partnership Raif S. Geha, Luigi D. Notarangelo Division of Immunology, Children’s Hospital, Boston Basel Ramadi and Suleiman Alhammadi Faculty of Medicine, UAE University, Al-Ain, UAE Waleed Al-Herz Al-Sabah Hospital, Kuwait Ghassan Dbaibo American University of Beirut Medical Center, Lebanon Abdullah Alangari King Khalid University Hospital, Saudi Arabia Necil Kutukculer Ege University, Izmir, Turkey

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11 Facilities / programs available at our center Availability (no / year 2007) I. Clinical diagnosis In-patient service for PID264 / year (28% new dx) Outpatient service for PID1466 II. Laboratory diagnosis Phenotyping600 (incl. lymphocyte phenoyping, differentiation patterns, 63 for leukemia) Functional assays - humoral √ ( anti-tetanus-antiHIB-differentiation studies) - cellular √ (in vitro l. prol.) - innateBurst test Molecular diagnosis √ (in the same building, different lab) III. Treatment IVIG √ Bone marrow transplantation √ (6 for PID in 2007) IV. Training program in PID √ (pediatric immunology fellowship+ medical students from year 2 to 6)

12 Estimated number of patients with various forms of PID followed at our center Estimated number of patients Antibody deficiencies410 Cellular immune deficiencies (incl.SCID+combined) 50 Innate/phagocytic cell defects40 Immune deficiency syndromes60

13 DIVISION CHIEF - RAIF S. GEHA ADMINISTRATION 1 Admin. Manager 1 Financial Manager 4 AA. CLINICAL PROGRAM HANS OETTGEN 1 Clinic Practice manager 4 RN, 5 AA LABORATORY PROGRAM RHEUMATOLOGY ROB SUNDEL 3 F.T. STAFF 4 P.T. STAFF 1 AA ALLERGY LYNDA SCHNEIDER 4 F.T. STAFF 8 P.T. STAFF 1 AA DERMATOLOGY STEVE GELLIS 2 F.T. STAFF 3 P.T. STAFF 1 AA CLINICAL RESEARCH LYNDA SCHNEIDER 1 Res Coordinator 2 CLINICAL ASST. LAB RESEARCH DXTIC LAB T. BONILLA 2 TECHS TRAINING PROGRAM Hans Oettgen 10 CLINICAL FELLOWS 1 AA CL. IMMUNOL. Tony Bonilla 3 F.T. STAFF 1 AA Geha 3 junior staff 10 fellows 1 tech 1 AA Notarangelo 2 junior staff 5 fellows 1 tech 1 AA Umetsu 2 junior staff 10 fellows 2 tech 1 AA Oettgen 4 fellows 1 tech The operating budget for 2007 was $ 17,671,994: $ 7,864,313 for research and $9,807,681 for clinical operations.

14 CLINICAL Allergy Immunodeficiency Rheumatology Dermatology TRAINING CLINICAL RESEARCH BASIC RESEARCH 8 physician scientists 11 basic scientists 12 current investigators DIAGNOSTIC 12 full timers 15 part timers 5 investigators Programs in the Division of Immunology at CH 2 Assoc. Professors 3 Professors 3 PhD in other HMS labs IMMUNOLOGY FACS analysis Functional studies Molecular Dx. PROGRAMS PROGRAM 7 Assist. Professors

15 Outreach of the Division of Immunology, CHB Harvard Medical School - Course in Primary Immune Deficiencies - Two ongoing Program Project grants - Graduate students (PhD thesis work on PID) National - USIDNET - Jeffrey Modell Center for Immunodeficiency - FOCIS Center of Excellence in Pediatric Immunology - NIH T32 training grant for fellows in Allergy/Immunology International - PID Committee, International Union of Immunological Societies (Chairs: Raif S. Geha, Luigi D. Notarangelo)

16 Specific Aims I.Identify the cellular and molecular basis of well characterized, but genetically undefined, PIDs II.Identify the molecular and cellular bases underlying novel PIDs III.Determine the incidence, genotype-phenotype correlation, and natural history of PIDs in the Middle East

17 Strategic plan to reach our goals Sharing of standards for Quality Control purpose. Sharing of reagents not commercially available (antibodies, cell lines). On-site visits of senior technicians and post-docs to help set up novel diagnostic tests. Implementation of diagnosis in the Middle East

18 Strategic plan to reach our goals Establish genotype-phenotype correlations specific to well defined PIDS Identify patients with undefined PIDs Take advantage of expertise and high-tech tools available in Boston to unravel the molecular defects in novel PIDs Research

19 Strategic plan to reach our goals Bidirectional visits with partners (1-2 visits per year) Short-term (2-3 months) training opportunities at CHB. On-site clinical training in the Middle East. Training

20 Strategic plan to reach our goals Bimonthly conference calls. Invite Middle East partners to: - bi-yearly IUIS Workshop on PIDs - yearly meeting of the PID Center in Boston Communication and integration process Co-authorship of scientific publications


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