1. Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry
- Author
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Mahnaz Jamee, Gholamreza Azizi, Safa Baris, Elif Karakoc-Aydiner, Ahmet Ozen, Sara Ş. Kiliç, Hulya Kose, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Tooba Momen, Bibi Shahin Shamsian, Mazdak Fallahi, Samin Sharafian, Nesrin Gülez, Ayşe Aygun, Neslihan Edeer Karaca, Necil Kutukculer, 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, Reda Djidjik, Hasibe Artac, 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 Bilgic Eltan, Royala Babayeva, Asena Pinar Sefer, Burcu Kolukisa, Ezgi Yalcin Gungoren, Melek Yorgun Altunbas, and Vafa Mammadova
- Subjects
Male ,Primary immunodeficiency ,Tunisia ,Inborn-Errors ,Adolescent ,Turkey ,Primary Immunodeficiency Diseases ,Immunology ,Vesicular Transport Proteins ,Inborn errors of immunity ,Autoimmune disorders ,rab27 GTP-Binding Proteins ,Lymphoproliferation ,Immune dysregulation ,Genetic ,Child, Preschool ,Humans ,Immunology and Allergy ,Egypt ,Female ,Registries ,Child ,Mutations ,Adaptor Proteins, Signal Transducing ,Retrospective Studies - 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., Alborz University of Medical Sciences, This work was supported by the vice chancellor for research, Alborz University of Medical Sciences.
- Published
- 2022
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