Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

BACKGROUND: Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited. OBJECTIVES: This study aims to characterize the categories of patients with CIDs in Iran clinically and genetically. METHODS: Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and nonsyndromic (352 patients) CIDs. Targeted DNA sequencing was performed on 243 (34.9%) patients. RESULTS: The overall diagnostic yield of the 243 sequenced patients was 77.8% (189 patients). The clinical diagnosis of hyper-IgE syndrome (P < .001), onset of disease at greater than 5 years (P = .02), and absence of multiple affected family members (P = .04) were significantly more frequent in the patients without a genetic diagnosis. An autosomal recessive disease was found in 62.9% of patients, reflecting the high rate of consanguinity in this cohort. Mutations impairing VDJ recombination and DNA repair were the most common underlying causes of CIDs. However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-telangiectasia mutated (ATM), autosomal dominant mutations in signal transducer and activator of transcription 3 (STAT3), and microdeletions in 22q11.21 were the most commonly affected genomic loci. Patients with syndromic CIDs had a significantly lower 5-year survival rate rather than those with nonsyndromic CIDs. CONCLUSIONS: 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.

Prevalence of multiple birth in Isfahan, Iran.

BACKGROUND: According to increasing rate of using assisted reproductive technology (ART) which result in higher rates of multiple birth and natal difficulties, we aimed to determine the prevalence rate of multiple birth pregnancies. MATERIALS AND METHODS: A descriptive cross-sectional study evaluating birth files in 2009-2010 of main hospitals of Isfahan, Iran. RESULTS: Among 31640 files' studies, 614 cases of multiple birth pregnancies were investigated. The product of these pregnancies were 1286 (50.2% females) infants including 557 twins (17.6/1000), 56 triplets (1.8/1000), and one case of quadruple (0.03/1000). Infants weigh <2500 g were 84.9% of all. Mothers had a mean age of 27.9 ± 4.9 which 30.4% of them had a positive history of using ART. CONCLUSION: The prevalence of multiple birth pregnancies is growing. The need for more mother and child care is important. Using ART world wide is leading more multiple birth which could be a cause for more complicated pregnancies.

Clinical features and risk factors associated with acute respiratory distress syndrome in pregnant women diagnosed with COVID-19: a multi-center case-control study.

OBJECTIVES: The aim of this study was to evaluate differences in clinical features and laboratory parameters in critically ill pregnant women with acute respiratory distress syndrome (ARDS) compared to moderate and severe pregnant women with coronavirus disease-2019 (COVID-19) but without ARDS. METHODS: This was a retrospective multicenter study of all pregnant women with COVID-19 diagnosed with ARDS between February 15, and May 1, 2020 in nine level III maternity centers in Iran (ARDS group). The control COVID-19 pregnant women were selected from 3 of 9 level III maternity centers between March 15 and April 20, 2020. Univariate statistics were used to look at differences between groups. Cluster dendrograms were used to look at the correlations between clinical and laboratory findings in the groups. A value of p <.05 was considered statistically significant. RESULTS: Fifteen COVID-19 infected women with ARDS were compared to 29 COVID-19 positive and ARDS negative control (moderate: (n = 26) 89.7% and severe: (n = 3)10.3%). The mean maternal age (35.6 vs. 29.4 years; p = .002) and diagnosis of chronic hypertension (20.0% vs. 0%, p = .034) were significantly higher in the ARDS group. There was no significant difference between the two groups in their presenting symptoms. The ARDS group had a significantly higher prevalence of tachypnea (66.6% vs. 10.3%, p = .042) and blood oxygen saturation (SpO2) <93% (66.6% vs. 10.3%, p = .004) at presentation. Relative lymphopenia (lymphocyte ratio < 10.5%, 66.6% vs. 17.2%, p = .002), lymphocytes to leukocytes ratio (11.3% vs. 17.7%, p = .010), and neutrophils to lymphocytes ratio (NLR) >7.5 were significantly different between the two groups (all p < .05). CONCLUSION: Our data demonstrate that symptom-based strategies for identifying the critically ill pregnant women with SARS-CoV-2 are insufficient; however, vital signs and laboratory data might be helpful to predict ARDS in critically ill COVID-19 pregnant patients.