Article
Inborn errors of immunity at school: How can we do better?
Adolescents with inborn errors of immunity face school challenges across adaptation, understanding, coordination, and socialization. In a multi-informant survey (patients, parents, teachers, and classmates), we found a lack of absenteeism protocols, educator knowledge gaps, and limited school-healthcare coordination, despite positive peer acceptance. We propose co-developing standardized protocols with authorities and patient groups.
Novel molecular assays for monitoring T cell function after HSCT in two siblings with variants in DCLRE1C
Lyytikäinen et al. report two novel assays to characterize T cell function in two patients with DCLRE1C variants diagnosed with leaky SCID. The cell division assay is used to quantify radiosensitivity in patient T cells, and the DNA double-strand break repair assay is used to measure repair defects.
Quality of life of X-linked agammaglobulinemia patients in the United Kingdom
Assessment of UK XLA patients reveals that bronchiectasis, present in the majority of adults, is strongly associated with diminished quality of life. Without lung disease, patients experience largely normal QoL, emphasizing the critical role of respiratory health in outcomes.
Research Letter
Hematopoietic stem cell transplant with a carrier donor rescues CD40L deficiency
Ebens et al. demonstrate successful allogeneic hematopoietic cell transplant of CD40L deficiency using an asymptomatic carrier mother donor, with achievement of 32% CD40L expression, recovery of thymopoiesis, normal T cell diversity, and functional outcomes of T and B cell interactions.
