Background: Artemis deficiency is an autosomal recessive disorder characterized by a combined immunodeficiency with increased cellular radiosensitivity. In this review, the clinical and genetic characteristics of 15 patients with DCLRE1C variants are presented.Methods: The demographic, clinical, immunologic, and genetic characteristics of patients with confirmed DCLRE1C variants diagnosed between 2013 and 2023 were collected retrospectively. Three patients were evaluated for radiosensitivity by the Comet assay, compared with age‐ and sex‐matched healthy control.Results: Seven patients who had severe infections in the first 6 months of life were diagnosed with T‐B‐NK+ SCID (severe combined immunodeficiency). Among them, four individuals underwent transplantation, and one of those died due to post‐transplant complications in early life. Eight patients had hypomorphic variants. Half of them were awaiting a suitable donor, while the other half had already undergone transplantation. The majority of patients were born into a consanguineous family (93.3%). Most patients had recurrent sinopulmonary infections (73.3%), and one patient had no other infection than an acute respiratory infection before diagnosis. Two patients (13.3%) had autoimmunity in the form of autoimmune hemolytic anemia. Growth retardation was observed in only one patient (6.6%), and no malignancy was detected in the surviving 11 patients during the median (IQR) of 21.5 (12–45) months of follow‐up. Three patients who had novel variants exhibited increased radiosensitivity and compromised DNA repair, providing a potential vulnerability to malignant transformation.Conclusion: Early diagnosis, radiation avoidance, and careful preparation for transplantation contribute to minimizing complications, enhancing life expectancy, and improving the patient's quality of life.

In recent decades, the prevalence of inborn errors of immunity has increased, necessitating the development of more effective treatment and care options for these highly morbid conditions. Due to these "experiments of nature," the complicated nature of the immune system is being revealed. Based on the functional and molecular tests, targeted therapies are now being developed which offer a more effective approach and reduce damage. This study aimed to investigate a key cytokine of the cellular immune response, interferon-gamma (IFN-γ), which is linked to Mendelian susceptibility to Mycobacterial disease, and its potential as a therapeutic option for IFN-γ deficiency.

Cite this article as: Meric Z, Aydemir S, Kilic Baskan A, et al. Atypical mycobacterial pneumonia in two siblings with a novel hypomorphic NEMO/IKBKG mutation. Turk Arch Pediatr. 2024;59(6):605-607.

The group of patients with DNA‐repair‐defects increases susceptibility to infections due to impaired repertoire diversity. In this context, we aimed to investigate the TCRvβ‐repertoire by flow cytometric analysis and its correlation with clinical entities in a group of IEI patients with DNA repair defects. Peripheral lymphocyte subset and TCRvβ‐repertoire analyses were performed by flow cytometric analysis. The aim was to explore the changing TCR‐Vβ‐repertoire that can predict some clinical entities by investigating the repertoire using flow‐cytometric‐analysis‐based TCR‐Vβ and its interaction with clinical entities in a group of IEI patients with DNA repair defects. TCR‐repertoire of the patients with DNA‐repair‐defects and healthy controls was analysed with flow‐cytometer. The potential of flow‐cytometric analysis of the TCR repertoire as a practical and easily accessible clinical prediction method was investigated. Thirty‐nine‐IEI patients with DNA‐repair‐defects and 15 age‐matched healthy‐controls were included in this study. Peripheral lymphocyte subset and TCR‐Vβ repertoire analyses were performed by flow cytometry. Compared to the control group, 9 out of 24 clones (37.5%) exhibited a statistically significant reduction, while only 3 clones showed a statistically significant increase (p < 0.05). Preferential use of vβ‐genes was associated with some clinical entities. Lower TCR‐vβ‐9 and TCR‐vβ23, higher TCR‐vβ7.2 were found in the patients with pneumonia (n = 13) (p = 0.018, p = 0.044 p = 0.032). AT patients with pneumonia had lower TCR‐vβ‐9 clone than patients without pneumonia (p = 0.008). Skewed proliferation of most TCR‐vβ clones was seen DNA‐repair‐defects, especially AT. In addition, this study showed that preferential use of TCR‐vβ genes could be predictive for some clinical entities.

Respiratory muscle dysfunction contributes to reduced pulmonary and extrapulmonary outcomes in children with asthma. Although inspiratory muscle training has been widely studied, the effects of expiratory muscle training (EMT) in pediatric asthma remain unclear. This study investigated the effects of EMT on pulmonary function, respiratory and peripheral muscle strength, peak cough flow (PCF), functional capacity, and asthma control in children with asthma. This prospective, single-blinded randomized controlled trial included 30 clinically stable children with asthma aged 8–18 years. Participants were randomly assigned to an experimental group (EG) receiving EMT in addition to a home-based chest physiotherapy program or a sham group (SG) performing the same program with minimal resistance. EMT was performed once daily for 8 weeks at 30% of maximal expiratory pressure (MEP) with weekly load adjustments. Pulmonary function, respiratory and peripheral muscle strength, PCF, functional capacity, and asthma control test (ACT) scores were assessed at baseline and after 8 weeks. FVC and FEV₁ improved significantly only in the EG, whereas PEF increased in both groups with greater improvement in the EG. MIP increased in both groups, while MEP and MEP (% predicted) improved only in the EG. PCF, quadriceps strength, and 6MWT distance improved in both groups, with greater gains in the EG. ACT scores increased significantly in both groups but improved more in the EG. Conclusion : Adding 8 weeks of EMT to chest physiotherapy improved pulmonary function, respiratory and peripheral muscle strength, cough effectiveness, functional capacity, and asthma control in children with asthma. EMT appears to be a safe and effective adjunct to pediatric asthma management. Trial registration : The study was prospectively registered on the ClinicalTrials.gov website (registration number: NCT07169071; Date: 09/05/2025). What is Known: • Respiratory muscle dysfunction is common in children with asthma and may contribute to reduced pulmonary function, ineffective cough, and decreased exercise capacity .• Most respiratory muscle training studies in asthma have focused primarily on inspiratory muscle training, while the role of expiratory muscle training remains largely unexplored . What is New: • This randomized controlled trial investigates the effects of expiratory muscle training (EMT) in children with asthma when combined with a home-based chest physiotherapy program .• The addition of 8 weeks of EMT resulted in greater improvements in pulmonary function, respiratory muscle strength, cough effectiveness, functional capacity, and asthma control compared with sham training .