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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The purpose of this study was to determine the initial rates of intravenous gamma-globulin treatment (IVIG) failure in Kawasaki disease (KD) and their predisposing factors. This study was a retrospective analysis of the initial response to IVIG (2 g/kg), assessed from the medical reports of all patients admitted to Namazee Hospital pediatric ward, from March 1998 to March 2002, and who fulfilled the criteria for KD. Data were available for 64 patients, 58 of whom (90.6%) became afebrile 48 hours after completion of the initial dose of IVIG (Group I) and six (9.4%) who remained febrile (Group II). Two patients had a prompt response to a second dose of IVIG. In Group I, five patients (8.6%) developed coronary artery disease, seen on echocardiography. In Group II, two patients (33.3%) developed coronary artery disease. No significant difference was found in the prevalence of coronary artery disease between the two groups (p = 0.12), or in age or gender. The rate of initial treatment failure was 9.4% in this cohort of patients, which is comparable with previous reports. No predictive factors such as coronary artery disease, age or gender were found for initial treatment failure in KD.