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Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry

2022; Elsevier BV; Volume: 244; Linguagem: Inglês

10.1016/j.clim.2022.109131

1521-7035

Mahnaz Jamee, Gholamreza Azizi, Safa Barış, Elif Karakoç-Aydıner, Ahmet Özen, Sara Şebnem Kılıç, Hulya Kose, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Tooba Momen, Bibi Shahin Shamsian, Mazdak Fallahi, Samin Sharafian, Nesrin Gülez, Ayşe Aygun, Neslihan Edeer Karaca, Necil Kütükçüler, Nashat Al Sukait, Tariq Al Farsi, Salem Al‐Tamemi, Nisreen Khalifa, Reda Shereen, Dalia El‐Ghoneimy, Rasha El‐Owaidy, Nesrine Radwan, Raed Alzyoud, Mohamed‐Ridha Barbouche, Imen Ben‐Mustapha, Najla Mekki, Afef Rais, Rachida Boukari, Reda Belbouab, Kamel Djenouhat, Azzeddine Tahiat, Souad Touri, Gehad ElGhazali, Suleiman Al‐Hammadi, Hiba Mohammed Shendi, Amna Alkuwaiti, Brahim Belaid, Réda Djidjik, Hasibe Artaç, Mehdi Adeli, Ali Sobh, Marwa H. Elnagdy, Sara A. Bahgat, Gulnara Nasrullayeva, Janet Chou, Nima Rezaei, Waleed Al‐Herz, Raif S. Geha, Hassan Abolhassani, Seyed Erfan Rasouli, Marzie Esmaeili, Reza Yazdani, Samaneh Delavari, Marzieh Tavakol, Homa Sadri, Abdollah Karimi, Reza Shiari, Samin Alavi, Delara Babaie, Peyman Eshghi, Shahnaz Armin, Ahmad Vosughimotlagh, Sevgi Bilgiç Eltan, Royala Babayeva, Asena Pınar Sefer, Burcu Kolukısa, Ezgi Yalçın Güngören, Melek Yorgun Altunbaş, Vafa Mammadova,

T-cell and B-cell Immunology

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.