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.

This study provides proof of principle for the application of targeted next-generation sequencing panels in countries with limited diagnostic resources. The effect of genetic diagnosis on clinical care requires continued improvements in therapeutic resources for these patients.

Registration of Iranian PID patients increased the awareness of medical community of Iran and developed diagnostic and therapeutic techniques across more parts of the country. Further efforts must be taken by increasing the coverage of IPIDR via electronically registration and gradual referral system in order to provide better estimation of PID in Iran and reduce the number of undiagnosed cases.

The aim of this study was to assess the candidal colonization and specific humoral responses against Candida albicans in patients with atopic dermatitis. One hundred patients with atopic dermatitis and 50 healthy individuals were enrolled in the study. Skin and oral specimens from all participants were cultured on CHROMagar Candida medium. Isolated yeasts were identified by using the sequence of the D1/D2 domain of the 26S rRNA gene. ELISA was used for detection of IgM, IgA, and IgG antibodies against C. albicans in sera of participants. Candida species were isolated from the skin and oral cavity of 31% of the patients and 12% of the controls. There was no significant difference between Candida colonization in patients and controls (P>0.05). Candida albicans was isolated from the skin and oral cavity of 23% of the patients and 6% of the controls (P< 0.05). There were no significant differences between serum levels of IgM and IgA in patients and controls (P>0.05). Serum level of IgG was significantly lower in patients than in controls (P<0.05). Type of Candida colonization can change in patients with atopic dermatitis. In addition, these patients have abnormalities in the production of antibodies against Candida albicans that may have a role in the pathogenesis of atopic dermatitis.

There are conflicting reports about the benefits of zinc supplements in childhood asthma. This study examined the effect of zinc supplementation in children with asthma attending an outpatient clinic in Sari, Islamic Republic of Iran. In a randomized, double-blind, placebo-controlled clinical trial over 8 weeks, 284 children on inhaled steroids were allocated to receive zinc supplements (50 mg/day) (n = 144) or placebo (n = 140). Cases and controls had low initial serum zinc concentrations [61.8 (SD 7.3) µg/dL and 60.9 (SD 4.3) µg/dL]. After treatment, mean serum zinc level in the case group was significantly higher [129 (SD 20.4) µg/dL] than in the controls [63 (SD 8.6) µg/dL]. There were no significant differences in IgE levels before and after treatment. The case group showed significant improvements in clinical symptoms such as cough, wheezing and dyspnoea and in all spirometry parameters (FVC, FEV1 and FEV1/FVC).