Allergic bronchopulmonary aspergillosis (ABPA) is a complex hypersensitivity reaction observed in asthma as well as cystic fibrosis (CF) patients due to the colonization of the airways by Aspergillus fumigatus. While ABPA is most commonly observed in CF patients (2-9%), it is seen at a rate of 1-2% in patients diagnosed with asthma. ABPA is mostly seen in steroid dependent adult asthma patients and has rarely been reported in pediatric asthma patients.
View Article and Find Full Text PDFIKKα is a multifunctional serine/threonine kinase that controls various biological processes, either dependent on or independent of its kinase activity. However, the importance of the kinase function of IKKα in human physiology remains unknown since no biallelic variants disrupting its kinase activity have been reported. In this study, we present a homozygous germline missense variant in the kinase domain of IKKα, which is present in three children from two Turkish families.
View Article and Find Full Text PDFPurpose: The measurement of T-cell receptor excision circle (TREC) is used for newborn screening (NBS) in dried blood spot (DBS) samples from Guthrie card for severe combined immunodeficiency (SCID). Here, we report the results of first newborn screening pilot program for SCID conducted in Türkiye.
Methods: The study was carried out together with Ankara University School of Medicine and The Ministry of Health, Public Health General Directorate, Pediatric and Adolescent Health Department.