Abolhassani, H and Kiaee, F and Tavakol, M and Chavoshzadeh, Z and Mahdaviani, SA and Momen, T and Yazdani,, R and Azizi, GH and Habibi,, S and Gharagozlou, M and Movahedi, M and Hamidieh, AA and Behniafard, N and Nabavi, M and Bemanian, MH and Arshi, S and Molatefi, R and Sherkat, R and Shirkani, A and Amin, R and Aleyasin, S and Faridhosseini, R and Jabbari-Azad, F and Mohammadzadeh, I and Ghaffari, J and Shafiei, A and Kalantari, A and Mansouri, M and Mesdaghi, M and Babaie, D and Ahanchian, H and Khoshkhui, M and Soheili, H and Eslamian, M and Cheraghi,, T and Dabbaghzadeh, A and Tavassoli, M and Kalmarzi, R and Mortazavi, SH and Kashef, S and Esmaeilzadeh, H and Tafaroji, J and Khalili, A and Zandieh, F and Sadeghi-Shabestari, M and Darougar, S and Behmanesh, F and Akbari, H and Zandkarimi, M and Abolnezhadian, F and Fayezi, A and Moghtaderi, M and Ahmadiafshar, A and Shakerian, B and Sajedi,, V and Taghvaei, B and Safari, M and Heidarzadeh, M and Ghalebaghi, B and Fathi, SM and Darabi, B and Bazregari, S and Bazargan, N and Fallahpour, M and Khayatzadeh, A and Javahertrash, N and Bashardoust,, B and Zamani, M and Mohsenzadeh, A and Ebrahimi, S and Sharafian, S and Vosughimotlagh, A and Tafakoridelbari, M and Rahimi, M and Ashournia, P and Razaghian, A and Rezaei,, A and Mamishi, S and Parvaneh, N and Rezaei, N and Hammarstrom, L and Aghamohammadi, A (2018) Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis. JOURNAL OF CLINICAL IMMUNOLOGY, 38 (7). pp. 816-832.
Full text not available from this repository.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 |
|---|---|
| Subjects: | Q Science > QR Microbiology > QR180 Immunology |
| Divisions: | Faculty of Medicine, Health and Life Sciences > School of Medicine |
| Depositing User: | lorestan university |
| Date Deposited: | 05 Nov 2018 05:57 |
| Last Modified: | 05 Nov 2018 05:57 |
| URI: | http://eprints.lums.ac.ir/id/eprint/1447 |
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