TY - JOUR
T1 - Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases
T2 - Middle East and North Africa registry
AU - MENA-I. E. I. Study Group
AU - Jamee, Mahnaz
AU - Azizi, Gholamreza
AU - Baris, Safa
AU - Karakoc-Aydiner, Elif
AU - Ozen, Ahmet
AU - Kiliç, Sara
AU - Kose, Hulya
AU - Chavoshzadeh, Zahra
AU - Mahdaviani, Seyed Alireza
AU - Momen, Tooba
AU - Shamsian, Bibi Shahin
AU - Fallahi, Mazdak
AU - Sharafian, Samin
AU - Gülez, Nesrin
AU - Aygun, Ayşe
AU - Karaca, Neslihan Edeer
AU - Kutukculer, Necil
AU - Al Sukait, Nashat
AU - Al Farsi, Tariq
AU - Al-Tamemi, Salem
AU - Khalifa, Nisreen
AU - Shereen, Reda
AU - El-Ghoneimy, Dalia
AU - El-Owaidy, Rasha
AU - Radwan, Nesrine
AU - Alzyoud, Raed
AU - Barbouche, Mohamed Ridha
AU - Ben-Mustapha, Imen
AU - Mekki, Najla
AU - Rais, Afef
AU - Boukari, Rachida
AU - Belbouab, Reda
AU - Djenouhat, Kamel
AU - Tahiat, Azzeddine
AU - Touri, Souad
AU - Elghazali, Gehad
AU - Al-Hammadi, Suleiman
AU - Shendi, Hiba Mohammed
AU - Alkuwaiti, Amna
AU - Belaid, Brahim
AU - Djidjik, Reda
AU - Artac, Hasibe
AU - Adeli, Mehdi
AU - Sobh, Ali
AU - Elnagdy, Marwa H.
AU - Bahgat, Sara A.
AU - Nasrullayeva, Gulnara
AU - Chou, Janet
AU - Rezaei, Nima
AU - Al-Herz, Waleed
N1 - Funding Information:
This work was supported by the vice chancellor for research, Alborz University of Medical Sciences .
Publisher Copyright:
© 2022
PY - 2022/11
Y1 - 2022/11
N2 - 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.
AB - 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.
KW - Autoimmune disorders
KW - Genetic
KW - Immune dysregulation
KW - Inborn errors of immunity
KW - Lymphoproliferation
KW - Primary immunodeficiency
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U2 - 10.1016/j.clim.2022.109131
DO - 10.1016/j.clim.2022.109131
M3 - Article
C2 - 36179983
AN - SCOPUS:85139067846
SN - 1521-6616
VL - 244
JO - Clinical Immunology
JF - Clinical Immunology
M1 - 109131
ER -