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

Jamee, Mahnaz; Azizi, Gholamreza; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kiliç, SARA; Kose, HÜLYA; Chavoshzadeh, Zahra; Mahdaviani, Seyed; Momen, Tooba; Shamsian, Bibi; Fallahi, Mazdak; Sharafian, Samin; Gülez, Nesrin; Aygun, Ayşe; Karaca, Neslihan; Kutukculer, Necil; Al Sukait, Nashat; Al Farsi, Tariq; Al-Tamemi, Salem; Khalifa, Nisreen; Shereen, Reda; El-Ghoneimy, Dalia; Hassan, Rasha; Radwan, Nesrine; Alzyoud, Raed; Barbouche, Mohamed-Ridha; Ben-Mustapha, Imen; Mekki, Najla; Rais, Afef; Boukari, Rachida; Belbouab, Reda; Djenouhat, Kamel; Tahiat, Azzeddine; Touri, Souad; Elghazali, Gehad; Al-Hammadi, Suleiman; Shendi, Hiba; Alkuwaiti, Amna; Belaid, Brahim; Djidjik, Reda; Artac, Hasibe; Adeli, Mehdi; Sobh, Ali; Elnagdy, Marwa; Bahgat, Sara; Nasrullayeva, Gulnara; Chou, Janet; Rezaei, Nima; Al-Herz, Waleed; Geha, Raif; Abolhassani, Hassan

doi:10.1016/j.clim.2022.109131

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

Atıf İçin Kopyala

Jamee M., Azizi G., Baris S., Karakoc-Aydiner E., Ozen A., Kiliç S. Ş., ...Daha Fazla

Clinical immunology (Orlando, Fla.), cilt.244, ss.109131, 2022 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 244
Basım Tarihi: 2022
Doi Numarası: 10.1016/j.clim.2022.109131
Dergi Adı: Clinical immunology (Orlando, Fla.)
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Veterinary Science Database
Sayfa Sayıları: ss.109131
Anahtar Kelimeler: Inborn errors of immunity, Primary immunodeficiency, Immune dysregulation, Autoimmune disorders, Lymphoproliferation, Genetic, PRIMARY IMMUNODEFICIENCY, INBORN-ERRORS, MUTATIONS
Bursa Uludağ Üniversitesi Adresli: Evet

Özet

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.