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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.contributor.authorBaris, Safa
dc.contributor.authorKarakoc-Aydiner, Elif
dc.contributor.authorKose, Hulya
dc.contributor.authorGulez, Nesrin
dc.contributor.authorGenel, Ferah
dc.contributor.authorReisli, Ismail
dc.contributor.authorDjenouhat, Kamel
dc.contributor.authorTahiat, Azzeddine
dc.contributor.authorBoukari, Rachida
dc.contributor.authorLadj, Samir
dc.contributor.authorBelbouab, Reda
dc.contributor.authorFerhani, Yacine
dc.contributor.authorBelaid, Brahim
dc.contributor.authorDjidjik, Reda
dc.contributor.authorKechout, Nadia
dc.contributor.authorAttal, Nabila
dc.contributor.authorSaidani, Khalissa
dc.contributor.authorBarbouche, Ridha
dc.contributor.authorBousfiha, Aziz
dc.contributor.authorSobh, Ali
dc.contributor.authorRizk, Ragheed
dc.contributor.authorElnagdy, Marwa H.
dc.contributor.authorAl-Ahmed, Mona
dc.contributor.authorAl-Tamemi, Salem
dc.contributor.authorNasrullayeva, Gulnara
dc.contributor.authorAdeli, Mehdi
dc.contributor.authorAl-Nesf, Maryam
dc.contributor.authorHassen, Amel
dc.contributor.authorMehawej, Cybel
dc.contributor.authorIrani, Carla
dc.contributor.authorMegarbane, Andre
dc.contributor.authorQuinn, Jessica
dc.contributor.authorMarodi, Laszlo
dc.contributor.authorModell, Vicki
dc.contributor.authorModell, Fred
dc.contributor.authorAl-Herz, Waleed
dc.contributor.authorGeha, Raif S.
dc.contributor.authorAbolhassani, Hassan
dc.contributor.buuauthorKilic, Sara Sebnem
dc.contributor.buuauthorKILIÇ GÜLTEKİN, SARA ŞEBNEM
dc.contributor.departmentBursa Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı.
dc.contributor.orcid0000-0002-9454-1603
dc.contributor.orcid0000-0001-6390-1074
dc.contributor.orcid0000-0002-6338-6946
dc.contributor.orcid0000-0002-8403-6128
dc.contributor.orcid0000-0003-4150-5200
dc.contributor.orcid0000-0001-8571-2581
dc.contributor.orcid0000-0002-3343-6949
dc.contributor.orcid0000-0001-8247-6405
dc.contributor.orcid0000-0001-7047-076X
dc.contributor.orcid0000-0002-7232-2629
dc.contributor.orcid0000-0002-3051-3080
dc.contributor.orcid0000-0001-9354-0214
dc.contributor.orcid0000-0002-7209-9359
dc.contributor.orcid0000-0002-7706-3910
dc.contributor.orcid0000-0003-0714-2469
dc.contributor.orcid0000-0002-6019-3751
dc.contributor.orcid0000-0002-7394-1640
dc.contributor.researcheridQ-6160-2016
dc.contributor.researcheridIWD-5692-2023
dc.contributor.researcheridB-4167-2009
dc.contributor.researcheridR-6749-2017
dc.contributor.researcheridABD-5574-2021
dc.contributor.researcheridHOF-7252-2023
dc.contributor.researcheridAAH-1658-2021
dc.contributor.researcheridABF-5609-2020
dc.contributor.researcheridAFU-4460-2022
dc.contributor.researcheridJVE-0572-2024
dc.contributor.researcheridGMX-2732-2022
dc.contributor.researcheridIQU-2494-2023
dc.contributor.researcheridKLE-3682-2024
dc.contributor.researcheridHKN-1599-2023
dc.contributor.researcheridB-3465-2014
dc.contributor.researcheridHHT-0915-2022
dc.contributor.researcheridIZE-1770-2023
dc.contributor.researcheridP-3381-2019
dc.contributor.researcheridT-7687-2017
dc.contributor.researcheridAFF-7478-2022
dc.contributor.researcheridM-4655-2018
dc.contributor.researcheridF-5958-2017
dc.contributor.researcheridN-5668-2017
dc.date.accessioned2024-06-25T13:27:13Z
dc.date.available2024-06-25T13:27:13Z
dc.date.issued2021-05-29
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.
dc.identifier.doi10.1007/s10875-021-01053-z
dc.identifier.endpage1351
dc.identifier.issn0271-9142
dc.identifier.issue6
dc.identifier.startpage1339
dc.identifier.urihttps://doi.org/10.1007/s10875-021-01053-z
dc.identifier.urihttps://hdl.handle.net/11452/42384
dc.identifier.volume41
dc.identifier.wos000655974500002
dc.indexed.wosWOS.SCI
dc.language.isoen
dc.publisherSpringer/plenum Publishers
dc.relation.journalJournal Of Clinical Immunology
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectPrimary immunodeficiency
dc.subjectDiagnosis
dc.subjectVariants
dc.subjectInborn errors of immunity
dc.subjectPrimary immunodeficiency
dc.subjectEpidemiology
dc.subjectBurden of disease
dc.subjectMolecular diagnosis
dc.subjectScience & technology
dc.subjectLife sciences & biomedicine
dc.subjectImmunology
dc.subjectImmunology
dc.titleConsensus Middle East and North Africa registry on inborn errors of immunity
dc.typeArticle
dspace.entity.typePublication
relation.isAuthorOfPublicationcb4f5525-5861-44f7-8234-fc2b376a934d
relation.isAuthorOfPublication.latestForDiscoverycb4f5525-5861-44f7-8234-fc2b376a934d

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