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Erschienen in:

09.10.2018 | Original Article

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

verfasst von: Hassan Abolhassani, Fatemeh Kiaee, Marzieh Tavakol, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Tooba Momen, Reza Yazdani, Gholamreza Azizi, Sima Habibi, Mohammad Gharagozlou, Masoud Movahedi, Amir Ali Hamidieh, Nasrin Behniafard, Mohammamd Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Afshin Shirkani, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari-Azad, Iraj Mohammadzadeh, Javad Ghaffari, Alireza Shafiei, Arash Kalantari, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Delara Babaie, Hamid Ahanchian, Maryam Khoshkhui, Habib Soheili, Mohammad Hossein Eslamian, Taher Cheraghi, Abbas Dabbaghzadeh, Mahmoud Tavassoli, Rasoul Nasiri Kalmarzi, Seyed Hamidreza Mortazavi, Sara Kashef, Hossein Esmaeilzadeh, Javad Tafaroji, Abbas Khalili, Fariborz Zandieh, Mahnaz Sadeghi-Shabestari, Sepideh Darougar, Fatemeh Behmanesh, Hedayat Akbari, Mohammadreza Zandkarimi, Farhad Abolnezhadian, Abbas Fayezi, Mojgan Moghtaderi, Akefeh Ahmadiafshar, Behzad Shakerian, Vahid Sajedi, Behrang Taghvaei, Mojgan Safari, Marzieh Heidarzadeh, Babak Ghalebaghi, Seyed Mohammad Fathi, Behzad Darabi, Saeed Bazregari, Nasrin Bazargan, Morteza Fallahpour, Alireza Khayatzadeh, Naser Javahertrash, Bahram Bashardoust, Mohammadali Zamani, Azam Mohsenzadeh, Sarehsadat Ebrahimi, Samin Sharafian, Ahmad Vosughimotlagh, Mitra Tafakoridelbari, Maziar Rahimi, Parisa Ashournia, Anahita Razaghian, Arezou Rezaei, Setareh Mamishi, Nima Parvaneh, Nima Rezaei, Lennart Hammarström, Asghar Aghamohammadi

Erschienen in: Journal of Clinical Immunology | Ausgabe 7/2018

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Abstract

Background

The 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.

Method

The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013–2018) and the result of molecular diagnosis in patients enrolled for targeted and next-generation sequencing.

Results

Considering 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.

Conclusions

During 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.

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Titel: Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis
verfasst von: Hassan Abolhassani
Fatemeh Kiaee
Marzieh Tavakol
Zahra Chavoshzadeh
Seyed Alireza Mahdaviani
Tooba Momen
Reza Yazdani
Gholamreza Azizi
Sima Habibi
Mohammad Gharagozlou
Masoud Movahedi
Amir Ali Hamidieh
Nasrin Behniafard
Mohammamd Nabavi
Mohammad Hassan Bemanian
Saba Arshi
Rasol Molatefi
Roya Sherkat
Afshin Shirkani
Reza Amin
Soheila Aleyasin
Reza Faridhosseini
Farahzad Jabbari-Azad
Iraj Mohammadzadeh
Javad Ghaffari
Alireza Shafiei
Arash Kalantari
Mahboubeh Mansouri
Mehrnaz Mesdaghi
Delara Babaie
Hamid Ahanchian
Maryam Khoshkhui
Habib Soheili
Mohammad Hossein Eslamian
Taher Cheraghi
Abbas Dabbaghzadeh
Mahmoud Tavassoli
Rasoul Nasiri Kalmarzi
Seyed Hamidreza Mortazavi
Sara Kashef
Hossein Esmaeilzadeh
Javad Tafaroji
Abbas Khalili
Fariborz Zandieh
Mahnaz Sadeghi-Shabestari
Sepideh Darougar
Fatemeh Behmanesh
Hedayat Akbari
Mohammadreza Zandkarimi
Farhad Abolnezhadian
Abbas Fayezi
Mojgan Moghtaderi
Akefeh Ahmadiafshar
Behzad Shakerian
Vahid Sajedi
Behrang Taghvaei
Mojgan Safari
Marzieh Heidarzadeh
Babak Ghalebaghi
Seyed Mohammad Fathi
Behzad Darabi
Saeed Bazregari
Nasrin Bazargan
Morteza Fallahpour
Alireza Khayatzadeh
Naser Javahertrash
Bahram Bashardoust
Mohammadali Zamani
Azam Mohsenzadeh
Sarehsadat Ebrahimi
Samin Sharafian
Ahmad Vosughimotlagh
Mitra Tafakoridelbari
Maziar Rahimi
Parisa Ashournia
Anahita Razaghian
Arezou Rezaei
Setareh Mamishi
Nima Parvaneh
Nima Rezaei
Lennart Hammarström
Asghar Aghamohammadi
Publikationsdatum: 09.10.2018
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 7/2018
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-018-0556-1

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

Abstract

Background

Method

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Conclusions

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Abstract

Background

Method

Results

Conclusions

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