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

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 nextgeneration 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.

The first cohort of Iranian patients with hyper immunoglobulin E syndrome: A long‐term follow‐up and genetic analysis

“…All HIES cases who had been referred to the Immunodeficiency Clinic at Children's Medical Center of Tehran University of Medical Sciences (Tehran—Iran) from 1980 to 2017 were enrolled to this study . The patients were recruited according to the guideline approach to severe eczema using SCORing Atopic Dermatitis (SCORAD >40), unsolved recurrent infections, and unsolved immune dysregulation.…”

“…Complete blood count, its differential, serum immunoglobulin, lymphocyte subpopulations, and specific antibody responses were measured, using previously published methods …”

“…All HIES cases who had been referred to the Immunodeficiency Clinic at Children's Medical Center of Tehran University of Medical Sciences (Tehran-Iran) from 1980 to 2017 were enrolled to this study. 16,17 The patients were recruited according to the guideline approach to severe eczema using SCORing Atopic Dermatitis (SCORAD >40), 18 of T-cell and B-cell deficiencies) (https://esid.org/Working-Parties/ Registry-Working-Party/Diagnosis-criteria). All patients with other types of PID associated with allergic diseases were excluded.…”

“…6,22,23 Complete blood count, its differential, serum immunoglobulin, lymphocyte subpopulations, and specific antibody responses were measured, using previously published methods. 16,17 Table S1) was carried out using a previously published pipeline. 24,25 Copy number variation was identified using both read count and paired-end methods on the input BAM data of TGS.…”

Newborn Screening for Primary Immunodeficiencies: The Gaps, Challenges, and Outlook for Developing Countries

“…Based on the data collected from different publications (Egypt, Israel, Kuwait, Morocco, Saudi Arabia, Tunisia) (33)(34)(35)(36)(37)(38), combined immunodeficiency (CID) ranks as the most common PID, whereas in Turkey (39), antibody deficiency is the most prevalent (32), and in the latest Iranian National registry too (40). The mean age of diagnosis is 2 years in the MENA region (32).…”