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

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dc.contributor.authorAghamohammadi, Asghar
dc.contributor.authorRezaei, Nima
dc.contributor.authorYazdani, Reza
dc.contributor.authorDelavari, Samaneh
dc.contributor.authorKutukculer, Necil
dc.contributor.authorTopyildiz, Ezgi
dc.contributor.authorOzen, Ahmet
dc.date.accessioned2024-02-23T13:56:14Z
dc.date.available2024-02-23T13:56:14Z
dc.date.issued2021
dc.departmentNEÜen_US
dc.description.abstractBackground 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. Methods 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. Results 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). Conclusions 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.en_US
dc.description.sponsorshipKarolinska Instituteen_US
dc.description.sponsorshipOpen access funding provided by Karolinska Institute.en_US
dc.identifier.doi10.1007/s10875-021-01053-z
dc.identifier.endpage1351en_US
dc.identifier.issn0271-9142
dc.identifier.issn1573-2592
dc.identifier.issue6en_US
dc.identifier.pmid34052995en_US
dc.identifier.scopus2-s2.0-85112155942en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage1339en_US
dc.identifier.urihttps://doi.org/10.1007/s10875-021-01053-z
dc.identifier.urihttps://hdl.handle.net/20.500.12452/11143
dc.identifier.volume41en_US
dc.identifier.wosWOS:000655974500002en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer/Plenum Publishersen_US
dc.relation.ispartofJournal Of Clinical Immunologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectInborn Errors Of Immunityen_US
dc.subjectPrimary Immunodeficiencyen_US
dc.subjectEpidemiologyen_US
dc.subjectBurden Of Diseaseen_US
dc.subjectMolecular Diagnosisen_US
dc.titleConsensus Middle East and North Africa Registry on Inborn Errors of Immunityen_US
dc.typeArticleen_US

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