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Clinical, Immunological, Molecular and Therapeutic Findings in Monogenic Immune Dysregulation Diseases: Middle East and North Africa Registry Publisher Pubmed



Jamee M1, 2 ; Azizi G3, 4 ; Baris S5, 6, 7 ; Karakocaydiner E5, 6, 7 ; Ozen A5, 6, 7 ; Kilic SS8 ; Kose H8 ; Chavoshzadeh Z1 ; Mahdaviani SA9 ; Momen T10 ; Shamsian BS11 ; Fallahi M1 ; Sharafian S1 ; Gulez N12 Show All Authors
Authors
  1. Jamee M1, 2
  2. Azizi G3, 4
  3. Baris S5, 6, 7
  4. Karakocaydiner E5, 6, 7
  5. Ozen A5, 6, 7
  6. Kilic SS8
  7. Kose H8
  8. Chavoshzadeh Z1
  9. Mahdaviani SA9
  10. Momen T10
  11. Shamsian BS11
  12. Fallahi M1
  13. Sharafian S1
  14. Gulez N12
  15. Aygun A13
  16. Karaca NE13
  17. Kutukculer N13
  18. Al Sukait N14
  19. Al Farsi T14
  20. Altamemi S15
  21. Khalifa N16
  22. Shereen R17
  23. Elghoneimy D17
  24. Elowaidy R17
  25. Radwan N17
  26. Alzyoud R18
  27. Barbouche MR19
  28. Benmustapha I20
  29. Mekki N20
  30. Rais A20
  31. Boukari R21
  32. Belbouab R21
  33. Djenouhat K22
  34. Tahiat A22
  35. Touri S23
  36. Elghazali G24
  37. Alhammadi S25
  38. Shendi HM26
  39. Alkuwaiti A26
  40. Belaid B27
  41. Djidjik R27
  42. Artac H28
  43. Adeli M29
  44. Sobh A30
  45. Elnagdy MH30
  46. Bahgat SA30
  47. Nasrullayeva G31
  48. Chou J32
  49. Rezaei N4
  50. Alherz W33, 34
  51. Geha RS32
  52. Abolhassani H1, 4, 35
Show Affiliations
Authors Affiliations
  1. 1. Immunology and Allergy Department, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. 2. Pediatric Nephrology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  3. 3. Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  4. 4. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Marmara University School of Medicine, Division of Allergy and Immunology, Istanbul, Turkey
  6. 6. The Isil Berat Barlan Center for Translational Medicine, Marmara University School of Medicine, Istanbul, Turkey
  7. 7. Istanbul Jeffrey Modell Foundation Diagnostic Center for Primary Immune Deficiencies, Istanbul, Turkey
  8. 8. Division of Pediatric Allergy and Immunology, Department of Pediatrics, Uludag University, Faculty of Medicine, Bursa, Turkey
  9. 9. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
  10. 10. Department of Asthma, Allergy and Clinical Immunology, Child Growth and Development Research Center, Research Institute of Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
  11. 11. Pediatric Congenital Hematologic Disorders Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  12. 12. Division of Pediatric Allergy and Immunology, University of Health Sciences, Dr. Behcet Uz Children's Education and Research Hospital, Izmir, Turkey
  13. 13. Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey
  14. 14. Department of Pediatric Allergy and Clinical Immunology, The Royal Hospital, Muscat, Oman
  15. 15. Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman
  16. 16. NBK Children's Hospital, Kuwait City, Kuwait
  17. 17. The pediatric allergy immunology and rheumatology unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt
  18. 18. Allergy, Immunology, and Rheumatology, Queen Rania Children's Hospital, Amman, Jordan
  19. 19. Institut Pasteur de Tunis, Universite Tunis El Manar, Tunis, Tunisia
  20. 20. Laboratory of Transmission, Control and Immunobiology of Infections (LR11IPT02), Department of Immunology, Institut Pasteur de Tunis and University Tunis El Manar, Tunis, Tunisia
  21. 21. Department of Pediatrics, University Hospital of Mustapha Pacha, Algiers, Algeria
  22. 22. Laboratory of Immunology, Department of Medical Biology, Rouiba Hospital, University of Algiers, Algiers, Algeria
  23. 23. Department of Pediatrics, University Hospital of Blida, Blida, Algeria
  24. 24. Department of Immunology, Sheikh Khalifa Medical City- Union 71/Purehealth, and Faculty of Medicine, United Arab Emirates University, Al Ain, United Arab Emirates
  25. 25. College of Medicine, Mohammed Bin Rashid University for Medicine and Health Sciences, Dubai, United Arab Emirates
  26. 26. Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates
  27. 27. Department of Medical Immunology, University Hospital Center of Beni Messous, University of Algiers, Algiers, Algeria
  28. 28. Division of Immunology and Allergy, Department of Pediatrics, Selcuk University Faculty of Medicine, Konya, Turkey
  29. 29. Allergy and Immunology Division, Pediatrics Department, Sidra Medicine, Doha, Qatar
  30. 30. Department of Pediatrics, Mansoura University Children's Hospital, Faculty of Medicine, Mansoura University, Mansoura, Egypt
  31. 31. Department Immunology Research Laboratory, Azerbaijan Medical University, Baku, Azerbaijan
  32. 32. Division of Immunology, Boston Children's Hospital and Harvard Medical School, 1 Blackfan Circle, Karp, Building, Boston, MA, United States
  33. 33. Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait City, Kuwait
  34. 34. Allergy and Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Kuwait City, Kuwait
  35. 35. Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institutet, Karolinska University Hospital, Huddinge, Stockholm, Sweden

Source: Clinical Immunology Published:2022


Abstract

Monogenic immune dysregulation diseases (MIDD) are caused by defective immunotolerance. This study was designed to increase knowledge on the prevalence and spectrum of MIDDs, genetic patterns, and outcomes in Middle East and North Africa (MENA). MIDD patients from 11 MENA countries (Iran, Turkey, Kuwait, Oman, Algeria, Egypt, United Arab Emirates, Tunisia, Jordan, Qatar, and Azerbaijan) were retrospectively evaluated. 343 MIDD patients (58% males and 42% female) at a median (IQR) age of 101 (42–192) months were enrolled. The most common defective genes were LRBA (23.9%), LYST (8.2%), and RAB27A (7.9%). The most prevalent initial and overall manifestations were infections (32.2% and 75.1%), autoimmunity (18.6% and 41%), and organomegaly (13.3% and 53.8%), respectively. Treatments included immunoglobulin replacement therapy (53%), hematopoietic stem cell transplantation (HSCT) (14.3%), immunosuppressives (36.7%), and surgery (3.5%). Twenty-nine (59.2%) patients survived HSCT. Along with infectious complications, autoimmunity and organomegaly may be the initial or predominant manifestations of MIDD. © 2022
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