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Purine nucleoside phosphorylase (PNP) deficiency is a rare immunodeficiency syndrome generally characterized by profound T cell deficiency and variable B cell function. More than half of PNP-deficient patients present with neurological dysfunction, with manifestations such as mental and motor retardation, spasticity, hypertonia, ataxia, and behavioral disturbances. Here, we report two siblings diagnosed with PNP deficiency in early infancy. Our patients had developmental delays, and their immunological findings indicated T-B+NK+ leaky/atypical severe combined immune deficiency. The patients are being treated with regular intravenous immunoglobulin replacement, as well as trimethoprim-sulfomethoxazole and fluconazole, for prophylaxis in preparation for transplantation. These cases draw attention to the possibility of primary immune deficiency in patients with recurrent infections and lymphopenia. In addition, PNP deficiency should be kept in mind in the presence of developmental delay, low uric acid levels, and lymphopenia. [ABSTRACT FROM AUTHOR]

Objective: Although there has been increased attention in recent years to the relationship between allergic disease and obesity, there is limited information about allergic rhinitis (AR) and central obesity. The aim of this study is to investigate the relationship between central obesity and rhinitis severity in patients with rhinitis and controls. Materials and Methods: A total of 164 children, aged 7-17 years, were included in the study between 2020 and 2021. Three groups were formed: AR, non-allergic rhinitis (NAR), and the control group. The height, weight, waist, hip, neck, and arm circumference of the groups were measured. The BMI, waist-to-hip ratio, waist-to-height ratio, and conicity index were calculated. Eosinophil and neutrophil counts, IgE levels, and allergic sensitization were recorded. Anthropometric measurements, rhinitis severity, and persistence were compared among the groups. Results: The study included a total of 164 children: 63 with AR, 51 with NAR, and 50 in the control groups of the children included in the study, 71 (43.3%) were boys, and 93 (56.7%) were girls. Approximately 30% of children with normal BMI were evaluated as centrally obese despite having a normal weight. Rhinitis patients had a higher prevalence of central obesity compared to the control group. When comparing both persistence and disease severity, central obesity was higher in AR patients than in NAR patients. The AR group had higher BMI, arm circumference, waist circumference, and neck circumference than the control group (p=0.003, p=0.01, 0.001, 0.004, respectively), while the waist-to-height ratio was higher in both the AR and NAR groups compared to the control group (p=0.001, p=0.026). Conclusion: In this study, central obesity was significantly higher in patients with AR and NAR than in the control group although there was no significant difference in obesity between the groups according to BMI. Additionally, centrally obese AR patients exhibited higher persistence and disease severity compared to NAR patients. In conclusion, other obesity indicators such as waist circumference should be measured in addition to height and body weight in children with AR and NAR. [ABSTRACT FROM AUTHOR]

Objective: We hypothesized that, compared with body mass index (BMI) alone, central obesity would provide added information regarding types of asthma (allergic, nonallergic) and asthma severity. Materials and Methods: A total of 150 children aged between 7-17 years with 50 allergic asthma, 50 nonallergic asthma and 50 controls were included in the study. Height, weight, waist and hip circumferences of the groups were measured. Waist-to-hip ratio and BMI were calculated. Pulmonary function test results were recorded. The relation between anthropometric measurements, asthma, atopy, obesity and each other was analyzed. Results: Obesity according to BMI was higher in the group with allergic asthma than nonallergic asthma and the control group (p: 0.014). A positive correlation was found between asthma and BMI percentile, BMI z score and waist-to-hip ratio (p: 0.002; 0.003; 0.040, respectively). Children with obesity according to waist circumference were more frequent in the groups with allergic and nonallergic asthma compared to the control group (p: 0.048). There was a significant relationship between asthma severity and central obesity (p: 0.048). FEV1 / FVC and FEF25-75 were lower in the asthmatic groups compared to the control group (p: 0.028; 0.012, respectively). Conclusion: This study showed that central obesity was associated with asthma and asthma severity, but not with atopy. More investigation is needed to clarify how central obesity in children affects the control of asthma and the response to asthma medication. [ABSTRACT FROM AUTHOR]