Portal de Periódicos da CAPES

Consensus Middle East and North Africa Registry on Inborn Errors of Immunity

2021; Springer Science+Business Media; Volume: 41; Issue: 6 Linguagem: Inglês

10.1007/s10875-021-01053-z

1573-2592

Asghar Aghamohammadi, Nima Rezaei, Reza Yazdani, Samaneh Delavari, Necil Kütükçüler, Ezgi Topyıldız, Ahmet Özen, Safa Barış, Elif Karakoç-Aydıner, Sara Şebnem Kılıç, Hulya Kose, Nesrin Gülez, Ferah Genel, İsmail Reisli, Kamel Djenouhat, Azzeddine Tahiat, Rachida Boukari, Samir Ladj, Reda Belbouab, Yacine Ferhani, Brahim Belaid, Réda Djidjik, Nadia Kechout, Nabila Attal, Khalissa Saidani, Mohamed‐Ridha Barbouche, Aziz Bousfiha, Ali Sobh, R. A. Rizk, Marwa H. Elnagdy, Mona Al‐Ahmad, Salem Al‐Tamemi, Gulnara Nasrullayeva, Mehdi Adeli, Maryam Al‐Nesf, Amel Hassen, Cybel Mehawej, Carla Irani, André Mégarbané, Jessica Quinn, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Mohammad Nabavi, Marzieh Tavakol, Nasrin Behniafard, Tooba Momen, Gholamreza Azizi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Afshin Shirkani, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari Azad, Hamid Ahanchian, Maryam Khoshkhui, Alireza Shafiei, N Kalantari, Iraj Mohammadzadeh, Javad Ghaffari, Taher Cheraghi, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Delara Babaie, Mohammad Hossein Eslamian, Abbas Dabbaghzadeh, Mahmoud Tavassoli, Ramin Ghasemi, Rasoul Nasiri Kalmarzi, Seyed Hamidreza Mortazavi, Sara Kashef, Hossein Esmaeilzadeh, Javad Tafaroji, Abbas Khalili, Fariborz Zandieh, Mahnaz Sadeghi‐Shabestari, Sepideh Darougar, Fatemeh Behmanesh, Hedayat Akbari, Mohammadreza Zandkarimi, Farhad Abolnezhadian, Abbas Fayezi, Mehdi Torabizadeh, Mojgan Moghtaderi, Habib Soheili, Akefeh Ahmadiafshar, Behzad Shakerian, Vahid Sajedi, Behrang Taghvaei, Mojgan Safari, Marzieh Heidarzadeh Arani, Babak Ghalebaghi, Seyed Mohammad Fathi, Behzad Darabi, Kian Darabi, Saeed Bazregari, Nasrin Bazargan, Morteza Fallahpour, Alireza Khayatzadeh, Bahram Bashardoust, Homa Sadri, Mohammadali Zamani, Azam Mohsenzadeh, Sarehsadat Ebrahimi, Reza Ghaemi, Fatemeh Zare Mehrjerdi, Samin Sharafian, Seyed Hesamedin Nabavizadeh, Leila Baniadam, Fereshteh Salari, Mahsa Rekabi, Ahmad Vosughimotlagh, Mitra Tafakoridelbari, Ali Pourvali, Arezou Rezaei, Amir Ali Hamidieh, Mansoureh Shariat, Mohammad Gharagozlou, Masoud Movahedi, Nima Parvaneh, Neslihan Edeer Karaca, Güzide Aksu, Sevgi Bilgiç Eltan, Nurhan Kasap, Burcu Kolukısa, Asena Pınar Sefer, Ezgi Yalçın Güngören, Roya babayeva, Lydia Lamara Mahammed, Ahmad Al-Khabaz, László Maródi, Vicki Modell, Fred Modell, Waleed Al‐Herz, Raif S. Geha, Hassan Abolhassani,

Blood disorders and treatments

Inborn errors of immunity (IEIs) are a heterogeneous group of genetic defects of immunity, which cause high rates of morbidity and mortality mainly among children due to infectious and non-infectious complications. The IEI burden has been critically underestimated in countries from middle- and low-income regions and the majority of patients with IEI in these regions lack a molecular diagnosis.We analyzed the clinical, immunologic, and genetic data of IEI patients from 22 countries in the Middle East and North Africa (MENA) region. The data was collected from national registries and diverse databases such as the Asian Pacific Society for Immunodeficiencies (APSID) registry, African Society for Immunodeficiencies (ASID) registry, Jeffrey Modell Foundation (JMF) registry, J Project centers, and International Consortium on Immune Deficiency (ICID) centers.We identified 17,120 patients with IEI, among which females represented 39.4%. Parental consanguinity was present in 60.5% of cases and 27.3% of the patients were from families with a confirmed previous family history of IEI. The median age of patients at the onset of disease was 36 months and the median delay in diagnosis was 41 months. The rate of registered IEI patients ranges between 0.02 and 7.58 per 100,000 population, and the lowest rates were in countries with the highest rates of disability-adjusted life years (DALY) and death rates for children. Predominantly antibody deficiencies were the most frequent IEI entities diagnosed in 41.2% of the cohort. Among 5871 patients genetically evaluated, the diagnostic yield was 83% with the majority (65.2%) having autosomal recessive defects. The mortality rate was the highest in patients with non-syndromic combined immunodeficiency (51.7%, median age: 3.5 years) and particularly in patients with mutations in specific genes associated with this phenotype (RFXANK, RAG1, and IL2RG).This comprehensive registry highlights the importance of a detailed investigation of IEI patients in the MENA region. The high yield of genetic diagnosis of IEI in this region has important implications for prevention, prognosis, treatment, and resource allocation.