Isfahan University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share By
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

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
Other Related Docs
11. Autoimmunity in Primary T-Cell Immunodeficiencies, Expert Review of Clinical Immunology (2016)
12. Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders, Journal of Investigational Allergology and Clinical Immunology (2017)
16. Noninfectious Complications in B-Lymphopenic Common Variable Immunodeficiency, Journal of Investigational Allergology and Clinical Immunology (2024)
19. Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort, Journal of Allergy and Clinical Immunology: In Practice (2019)
20. Primary Antibody Deficiency in a Tertiary Referral Hospital: A 30-Year Experiment, Journal of Investigational Allergology and Clinical Immunology (2015)