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Repository of Research and Investigative Information

Ilam University of Medical Sciences

Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis

Wed May 18 17:49:10 2022

(2018) Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis. Journal of Clinical Immunology. pp. 816-832. ISSN 0271-9142

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Abstract

BackgroundThe number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders.MethodThe current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5years (2013-2018) and the result of molecular diagnosis in patients enrolled for targeted and next-generation sequencing.ResultsConsidering the newly diagnosed patients (n=1395), the total number of registered PID patients reached 3056 (1852 male and 1204 female) from 31 medical centers. The predominantly antibody deficiency was the most common subcategory of PID (29.5). The putative causative genetic defect was identified in 1014 patients (33.1) and an autosomal recessive pattern was found in 79.3 of these patients. Among the genetically different categories of PID patients, the diagnostic rate was highest in defects in immune dysregulation and lowest in predominantly antibody deficiencies and mutations in the MEFV gene were the most frequent genetic disorder in our cohort.ConclusionsDuring a 20-year registration of Iranian PID patients, significant changes have been observed by increasing the awareness of the medical community, national PID network establishment, improving therapeutic facilities, and recently by inclusion of the molecular diagnosis. The current collective study of PID phenotypes and genotypes provides a major source for ethnic surveillance, newborn screening, and genetic consultation for prenatal and preimplantation genetic diagnosis.

Item Type: Article
Creators:
CreatorsEmail
Abolhassani, H.UNSPECIFIED
Kiaee, F.UNSPECIFIED
Tavakol, M.UNSPECIFIED
Chavoshzadeh, Z.UNSPECIFIED
Mahdaviani, S. A.UNSPECIFIED
Momen, T.UNSPECIFIED
Yazdani, R.UNSPECIFIED
Azizi, G.UNSPECIFIED
Habibi, S.UNSPECIFIED
Gharagozlou, M.UNSPECIFIED
Movahedi, M.UNSPECIFIED
Hamidieh, A. A.UNSPECIFIED
Behniafard, N.UNSPECIFIED
Nabavi, M.UNSPECIFIED
Bemanian, M. H.UNSPECIFIED
Arshi, S.UNSPECIFIED
Molatefi, R.UNSPECIFIED
Sherkat, R.UNSPECIFIED
Shirkani, A.UNSPECIFIED
Amin, R.UNSPECIFIED
Aleyasin, S.UNSPECIFIED
Faridhosseini, R.UNSPECIFIED
Jabbari-Azad, F.UNSPECIFIED
Mohammadzadeh, I.UNSPECIFIED
Ghaffari, J.UNSPECIFIED
Shafiei, A.UNSPECIFIED
Kalantari, A.UNSPECIFIED
Mansouri, M.UNSPECIFIED
Mesdaghi, M.UNSPECIFIED
Babaie, D.UNSPECIFIED
Ahanchian, H.UNSPECIFIED
Khoshkhui, M.UNSPECIFIED
Soheili, H.UNSPECIFIED
Eslamian, M. H.UNSPECIFIED
Cheraghi, T.UNSPECIFIED
Dabbaghzadeh, A.UNSPECIFIED
Tavassoli, M.UNSPECIFIED
Kalmarzi, R. N.UNSPECIFIED
Mortazavi, S. H.UNSPECIFIED
Kashef, S.UNSPECIFIED
Esmaeilzadeh, H.UNSPECIFIED
Tafaroji, J.UNSPECIFIED
Khalili, A.UNSPECIFIED
Zandieh, F.UNSPECIFIED
Sadeghi-Shabestari, M.UNSPECIFIED
Darougar, S.UNSPECIFIED
Behmanesh, F.UNSPECIFIED
Akbari, H.UNSPECIFIED
Zandkarimi, M.UNSPECIFIED
Abolnezhadian, F.UNSPECIFIED
Fayezi, A.UNSPECIFIED
Moghtaderi, M.UNSPECIFIED
Ahmadiafshar, A.UNSPECIFIED
Shakerian, B.UNSPECIFIED
Sajedi, V.UNSPECIFIED
Taghvaei, B.UNSPECIFIED
Safari, M.UNSPECIFIED
Heidarzadeh, M.UNSPECIFIED
Ghalebaghi, B.UNSPECIFIED
Fathi, S. M.UNSPECIFIED
Darabi, B.UNSPECIFIED
Bazregari, S.UNSPECIFIED
Bazargan, N.UNSPECIFIED
Fallahpour, M.UNSPECIFIED
Khayatzadeh, A.UNSPECIFIED
Javahertrash, N.UNSPECIFIED
Bashardoust, B.UNSPECIFIED
Zamani, M.UNSPECIFIED
Mohsenzadeh, A.UNSPECIFIED
Ebrahimi, S.UNSPECIFIED
Sharafian, S.UNSPECIFIED
Vosughimotlagh, A.UNSPECIFIED
Tafakoridelbari, M.UNSPECIFIED
Rahimi, M.UNSPECIFIED
Ashournia, P.UNSPECIFIED
Razaghian, A.UNSPECIFIED
Rezaei, A.UNSPECIFIED
Mamishi, S.UNSPECIFIED
Parvaneh, N.UNSPECIFIED
Rezaei, N.UNSPECIFIED
Hammarstrom, L.UNSPECIFIED
Aghamohammadi, A.UNSPECIFIED
Keywords: Epidemiology Iran primary immunodeficiency molecular diagnosis chronic granulomatous-disease severe congenital neutropenia common variable immunodeficiency adhesion deficiency type-1 griscelli syndrome type-2 primary immune-deficiency of-function mutation hemophagocytic lymphohistiocytosis itgb2 gene mycobacterial disease Immunology
Divisions:
Page Range: pp. 816-832
Journal or Publication Title: Journal of Clinical Immunology
Journal Index: ISI
Volume: 38
Number: 7
Identification Number: https://doi.org/10.1007/s10875-018-0556-1
ISSN: 0271-9142
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/21

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