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.

Patients with CVID had a greater likelihood of developing lung disease, possibly due to delayed diagnosis and immune dysregulation, as compared with XLA patients. Early diagnosis of patients with primary antibody deficiencies and adequate i.v. immunoglobulin replacement therapy substantially reduces the number of pulmonary infections. However, CVID patients are prone to progression of lung disease despite optimal immunoglobulin therapy because of the nature of the disease. This important issue should be addressed in further studies.

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Introduction:Pulse oximetry is shown to be a reliable indicator of severity of pneumonia in children, and its use is associated with decrease in mortality of pneumonia among children. Also it is a cost-effective tool in management of pneumonia. The general objective of this study is to determine the relationship between pulse oximetry results and prognosis of children with pneumonia. Methods: This cross-sectional study was carried out on children with respiratory symptoms aged 1 month to 5 years old referring to Bandar Abbas Pediatric Hospital, Iran between January and March 2016. Convenience sampling was used to select the study participants. According to the clinical signs and symptoms, as well as chest radiography, patients were allocated to one of the groups of Pneumonia or Non-Pneumonia. O2 saturation was measured at baseline, using pulse oximetry. The patients were assessed for condition at discharge, oxygendelivery device, and duration of hospitalization. Independent samples t-test, one-way analysis of variance (ANOVA) and Pearson Correlation were used for data analysis via IBM SPSS version 23.0 software. A p-value less than 0.05 was considered as significant. Results: In total, 299 patients with a mean age of 14.3 ± 9.83 years were studied in two groups of Pneumonia (n=149) and Control (n=150). Of the two groups, 178 (59.5%) were male and 121 (40.5%) were female. Baseline mean O2 saturation was 97.90 ± 4.60 percent in the pneumonia group and 99.95 ± 0.57 percent in the nonpneumonia group (p < 0.001). Among pneumonia patients, saturation of O2 was significantly lower in the group of patients who died, in comparison to children who were discharged by the physician or by parental consent. (83 ± 8.27 versus 98.17 ± 3.69 and 99.16 ± 2.56; p < 0.001). Results of this study showed that there was significant difference in the saturation of O2 according to oxygen-delivery devices in pneumonia patients (p < 0.001). Conclusion: Lower initial O2 saturation is observed in the pneumonia patients in comparison to the control group, in patients with death, in comparison to discharged patients by physician or parental consent. Also, the O2 saturation was significantly different according the oxygen-delivery devices (p < 0.001). Furthermore, lower O2 saturation was associated with longer duration of hospitalization. Therefore, pulse oximetry has good prognostic role in children with pneumonia. We recommend using pulse oximetry in evaluation of children with pneumonia especially in low resource setting.