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

• Published in: Journal of clinical immunology Vol. 38; no. 7; pp. 816 - 832
• Main Authors: Abolhassani, Hassan, Kiaee, Fatemeh, Tavakol, Marzieh, Chavoshzadeh, Zahra, Mahdaviani, Seyed Alireza, Momen, Tooba, Yazdani, Reza, Azizi, Gholamreza, Habibi, Sima, Gharagozlou, Mohammad, Movahedi, Masoud, Hamidieh, Amir Ali, Behniafard, Nasrin, Nabavi, Mohammamd, Bemanian, Mohammad Hassan, Arshi, Saba, Molatefi, Rasol, Sherkat, Roya, Shirkani, Afshin, Amin, Reza, Aleyasin, Soheila, Faridhosseini, Reza, Jabbari-Azad, Farahzad, Mohammadzadeh, Iraj, Ghaffari, Javad, Shafiei, Alireza, Kalantari, Arash, Mansouri, Mahboubeh, Mesdaghi, Mehrnaz, Babaie, Delara, Ahanchian, Hamid, Khoshkhui, Maryam, Soheili, Habib, Eslamian, Mohammad Hossein, Cheraghi, Taher, Dabbaghzadeh, Abbas, Tavassoli, Mahmoud, Kalmarzi, Rasoul Nasiri, Mortazavi, Seyed Hamidreza, Kashef, Sara, Esmaeilzadeh, Hossein, Tafaroji, Javad, Khalili, Abbas, Zandieh, Fariborz, Sadeghi-Shabestari, Mahnaz, Darougar, Sepideh, Behmanesh, Fatemeh, Akbari, Hedayat, Zandkarimi, Mohammadreza, Abolnezhadian, Farhad, Fayezi, Abbas, Moghtaderi, Mojgan, Ahmadiafshar, Akefeh, Shakerian, Behzad, Sajedi, Vahid, Taghvaei, Behrang, Safari, Mojgan, Heidarzadeh, Marzieh, Ghalebaghi, Babak, Fathi, Seyed Mohammad, Darabi, Behzad, Bazregari, Saeed, Bazargan, Nasrin, Fallahpour, Morteza, Khayatzadeh, Alireza, Javahertrash, Naser, Bashardoust, Bahram, Zamani, Mohammadali, Mohsenzadeh, Azam, Ebrahimi, Sarehsadat, Sharafian, Samin, Vosughimotlagh, Ahmad, Tafakoridelbari, Mitra, Rahimi, Maziar, Ashournia, Parisa, Razaghian, Anahita, Rezaei, Arezou, Mamishi, Setareh, Parvaneh, Nima, Rezaei, Nima, Hammarström, Lennart, Aghamohammadi, Asghar
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.10.2018; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Diagnosis; Genetic disorders; Genetic screening; Genotypes; Hereditary diseases; Immunodeficiency; Immunology; Infectious Diseases; Internal Medicine; Medical Microbiology; Medical screening; Medicin och hälsovetenskap; Original Article; Phenotypes; Primary immunodeficiencies; primary immunodeficiency; Iran; Epidemiology; molecular diagnosis
• ISSN: 0271-9142; 1573-2592; 1573-2592
• DOI: 10.1007/s10875-018-0556-1

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.