Journal Article

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

Djidjik Reda, Rasol, Molatefi, Maródi László, Dabbaghzadeh Abbas, Nabavizadeh Seyed Hesamodin, Parvaneh Nima, Barbouche Ridha, Vosughimotlagh Ahmad, Kalantari Arash, Bashardoust Bahram, Babaie Delara, Mesdaghi Mehrnaz, Karaca, Neslihan Edeer, Ghaemi Reza, Ebrahimi Sarehsadat, Fayezi Abbas, Sherkat Roya, Pourvali Ali, Modell, Fred, Zamani Mohammadali, Al-Tamemi, Salem, Quinn, Jessica, Safa, Baris, Jabbari-Azad Farahzad, Sefer Asena Pınar, Mohammadzadeh Iraj, Behmanesh Fatemeh, Faridhosseini Reza, Ghasemi Ramin, Gulez Nesrin, Karakoc-Aydiner Elif, Kolukisa Burcu, Khoshkhui Maryam, Sajedi Vahid, Rekabi Mahsa, Elnagdy, Marwa H, Mahdaviani Seyed Alireza, Aleyasin Soheila, Yalcin Ezgi, Kechout Nadia, Amin Reza, Tafaroji Javad, Shafiei Alireza, Soheili Habib, Aziz, Bousfiha, Saidani Khalissa, Tahiat Azzeddine, Zandkarimi Mohammadreza, Mahammed Lydia Lamara, Safari Mojgan, Adeli Mehdi, Ozen Ahmet, Kalmarzi, Rasoul Nasiri, Salari Fereshteh, Azizi Gholamreza, babayeva Roya, Heidarzadeh Marzieh, Rizk Ragheed, Esmaeilzadeh Hossein, Ahanchian Hamid, Eslamian, Mohammad Hossein, Aksu Guzide, Gharagozlou Mohammad, Necil, Kut

2021

Overview

BackgroundInborn 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.MethodsWe 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.ResultsWe 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).ConclusionsThis 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.

• Publisher: Springer Nature B.V
• Subject: Children / Consanguinity / Diagnosis / Genetic screening / Immunity / Immunodeficiency / Morbidity / Mortality / Patients / Phenotypes / RAG1 protein / Resource allocation