1. Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis
- Author
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Seyed Alireza Mahdaviani, Mohammad Ali Zamani, Azam Mohsenzadeh, Abbas Fayezi, Seyed Hamidreza Mortazavi, Zahra Chavoshzadeh, Behrang Taghvaei, Fatemeh Behmanesh, Mohammamd Nabavi, Morteza Fallahpour, Behzad Shakerian, Sima Habibi, Babak Ghalebaghi, Behzad Darabi, Parisa Ashournia, Afshin Shirkani, Nasrin Behniafard, Nima Rezaei, Masoud Movahedi, Nasrin Bazargan, Gholamreza Azizi, Marzieh Heidarzadeh, Hedayat Akbari, Rasol Molatefi, Javad Ghaffari, Anahita Razaghian, Alireza Shafiei, Arezou Rezaei, Habib Soheili, Reza Amin, Marzieh Tavakol, Ahmad Vosughimotlagh, Taher Cheraghi, Saba Arshi, Hamid Ahanchian, Nima Parvaneh, Abbas Khalili, Soheila Aleyasin, Fatemeh Kiaee, Tooba Momen, Mohammad Hossein Eslamian, Mehrnaz Mesdaghi, Mitra Tafakoridelbari, Javad Tafaroji, Bahram Bashardoust, Seyed Mohammad Fathi, Reza Yazdani, Amir Ali Hamidieh, Mohammad Hassan Bemanian, Mahboubeh Mansouri, Reza Faridhosseini, Mojgan Safari, Rasoul Nasiri Kalmarzi, Hassan Abolhassani, Iraj Mohammadzadeh, Farahzad Jabbari-Azad, Mahnaz Sadeghi-Shabestari, Sarehsadat Ebrahimi, Asghar Aghamohammadi, Saeed Bazregari, Abbas Dabbaghzadeh, Arash Kalantari, Farhad Abolnezhadian, Naser Javahertrash, Lennart Hammarström, Sara Kashef, Vahid Sajedi, Hossein Esmaeilzadeh, Mohammadreza Zandkarimi, Maryam Khoshkhui, Roya Sherkat, Alireza Khayatzadeh, Fariborz Zandieh, Setareh Mamishi, Sepideh Darougar, Akefeh Ahmadiafshar, Mahmoud Tavassoli, Samin Sharafian, Mohammad Gharagozlou, Maziar Rahimi, Mojgan Moghtaderi, and Delara Babaie
- Subjects
Adult ,Male ,0301 basic medicine ,medicine.medical_specialty ,Pediatrics ,Adolescent ,Immunology ,Iran ,Preimplantation genetic diagnosis ,medicine.disease_cause ,Young Adult ,03 medical and health sciences ,0302 clinical medicine ,Epidemiology ,Prevalence ,medicine ,Humans ,Immunology and Allergy ,Genetic Predisposition to Disease ,Genetic Testing ,Registries ,Geography, Medical ,Child ,Newborn screening ,business.industry ,Age Factors ,Immunologic Deficiency Syndromes ,Infant, Newborn ,Genetic disorder ,Infant ,Middle Aged ,Immune dysregulation ,medicine.disease ,MEFV ,030104 developmental biology ,Molecular Diagnostic Techniques ,Child, Preschool ,Population Surveillance ,Cohort ,Primary immunodeficiency ,Female ,Disease Susceptibility ,business ,Follow-Up Studies ,030215 immunology - Abstract
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. 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. 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. 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.
- Published
- 2018
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