1. Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry.
- Author
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Jamee M, Azizi G, Baris S, Karakoc-Aydiner E, Ozen A, Kiliç SŞ, Kose H, Chavoshzadeh Z, Mahdaviani SA, Momen T, Shamsian BS, Fallahi M, Sharafian S, Gülez N, Aygun A, Karaca NE, Kutukculer N, Al Sukait N, Al Farsi T, Al-Tamemi S, Khalifa N, Shereen R, El-Ghoneimy D, El-Owaidy R, Radwan N, Alzyoud R, Barbouche MR, Ben-Mustapha I, Mekki N, Rais A, Boukari R, Belbouab R, Djenouhat K, Tahiat A, Touri S, Elghazali G, Al-Hammadi S, Shendi HM, Alkuwaiti A, Belaid B, Djidjik R, Artac H, Adeli M, Sobh A, Elnagdy MH, Bahgat SA, Nasrullayeva G, Chou J, Rezaei N, Al-Herz W, Geha RS, and Abolhassani H
- Subjects
- Adaptor Proteins, Signal Transducing genetics, Adolescent, Child, Child, Preschool, Egypt, Female, Humans, Male, Registries, Retrospective Studies, Tunisia, Turkey, Vesicular Transport Proteins genetics, rab27 GTP-Binding Proteins genetics, Primary Immunodeficiency Diseases genetics
- 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., Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest to declare that are relevant to the content of this article., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)
- Published
- 2022
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