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.
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