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Consensus Middle East and North Africa Registry on Inborn Errors of Immunity Publisher Pubmed



Aghamohammadi A68 ; Rezaei N68 ; Yazdani R68 ; Delavari S68 ; Kutukculer N1 ; Topyildiz E1 ; Ozen A2, 3 ; Baris S2, 3 ; Karakocaydiner E2, 3 ; Kilic SS4 ; Kose H4 ; Gulez N5 ; Genel F5 ; Reisli I6 Show All Authors
Authors
  1. Aghamohammadi A68
  2. Rezaei N68
  3. Yazdani R68
  4. Delavari S68
  5. Kutukculer N1
  6. Topyildiz E1
  7. Ozen A2, 3
  8. Baris S2, 3
  9. Karakocaydiner E2, 3
  10. Kilic SS4
  11. Kose H4
  12. Gulez N5
  13. Genel F5
  14. Reisli I6
  15. Djenouhat K7
  16. Tahiat A7
  17. Boukari R8
  18. Ladj S8
  19. Belbouab R8
  20. Ferhani Y8
  21. Belaid B9
  22. Djidjik R9
  23. Kechout N10
  24. Attal N10
  25. Saidani K10
  26. Barbouche R11
  27. Bousfiha A12
  28. Sobh A13
  29. Rizk R13
  30. Elnagdy MH14
  31. Alahmed M15, 16
  32. Altamemi S17
  33. Nasrullayeva G18
  34. Adeli M19
  35. Alnesf M20
  36. Hassen A19
  37. Mehawej C21
  38. Irani C22
  39. Megarbane A21
  40. Quinn J23
  41. Chavoshzadeh Z30
  42. Mahdaviani SA30
  43. Nabavi M30
  44. Tavakol M31
  45. Behniafard N32
  46. Momen T31
  47. Azizi G31
  48. Bemanian MH30
  49. Arshi S30
  50. Molatefi R33
  51. Sherkat R31
  52. Shirkani A34
  53. Amin R35
  54. Aleyasin S35
  55. Faridhosseini R36
  56. Jabbariazad F36
  57. Ahanchian H36
  58. Khoshkhui M36
  59. Shafiei A30
  60. Kalantari A30
  61. Mohammadzadeh I37
  62. Ghaffari J38
  63. Cheraghi T39
  64. Mansouri M30
  65. Mesdaghi M30
  66. Babaie D30
  67. Eslamian MH40
  68. Dabbaghzadeh A38
  69. Tavassoli M31
  70. Ghasemi R31
  71. Kalmarzi RN41
  72. Mortazavi SH42
  73. Kashef S35
  74. Tafaroji J43
  75. Khalili A32
  76. Zandieh F30
  77. Sadeghishabestari M44
  78. Darougar S30
  79. Behmanesh F35
  80. Akbari H35
  81. Zandkarimi M36
  82. Abolnezhadian F45
  83. Fayezi A45
  84. Torabizadeh M45
  85. Moghtaderi M36
  86. Soheili H46
  87. Ahmadiafshar A47
  88. Shakerian B31
  89. Sajedi V48
  90. Taghvaei B49
  91. Safari M40
  92. Heidarzadeh M50
  93. Ghalebaghi B39
  94. Fathi SM51
  95. Darabi B52
  96. Darabi K30
  97. Bazregari S34
  98. Bazargan N53
  99. Fallahpour M30
  100. Khayatzadeh A30
  101. Bashardoust B30
  102. Sadri H31
  103. Zamani M54
  104. Mohsenzadeh A55
  105. Ebrahimi S53
  106. Ghaemi R56
  107. Mehrjerdi FZ32
  108. Sharafian S30
  109. Nabavizadeh SH35
  110. Baniadam L30
  111. Salari F30
  112. Rekabi M30
  113. Vosughimotlagh A57
  114. Tafakoridelbari M30
  115. Pourvali A30
  116. Rezaei A30
  117. Hamidieh AA30
  118. Shariat M30
  119. Gharagozlou M30
  120. Movahedi M30
  121. Parvaneh N30
  122. Karaca NE58, 59
  123. Aksu G58, 59
  124. Bilgic Eltan S60, 61, 62, 63, 64, 65
  125. Kasap N60, 61, 62, 63, 64, 65
  126. Kolukisa B60, 61, 62, 63, 64, 65
  127. Sefer AP60, 61, 62, 63, 64, 65
  128. Yalcin E60, 61, 62, 63, 64, 65
  129. Babayeva R60, 61, 62, 63, 64, 65
  130. Mahammed LL66
  131. Alkhabaz A67
  132. Marodi L24, 25, 26, 27
  133. Modell V23, 28
  134. Modell F23, 29
  135. Abolhassani H68

Source: Journal of Clinical Immunology Published:2021


Abstract

Background: Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis. Methods: We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers. Results: We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG). Conclusions: This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation. © 2021, The Author(s).
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