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SASH3 deficiency is an X-linked combined immunodeficiency characterized by recurrent sinopulmonary, cutaneous, and mucosal infections, refractory autoimmune cytopenia, and immune dysregulation. We report here the first t...

BackgroundSolid organ transplantation is an effective treatment for end-stage organ diseases, including renal, hepatic, cardiac, and pulmonary failure (1). Long-term graft survival depends on sustained immunosuppression;...

DNA ligase IV (LIG4) is essential for repairing breaks in double-stranded DNA via nonhomologous end-joining in developing lymphocytes and is particularly important for V(D)J recombination. First described in the early 20...

IntroductionSystemic lupus erythematosus (SLE) in prepubertal children is rare and can indicate a monogenic cause. Although outcomes are variable, monogenic lupus is often difficult to treat with long-term complications ...

We describe two Turkish patients with tyrosine kinase 2 (TYK2) deficiency who experienced recurrent infections ranging from viral to bacterial and intracellular pathogens.Case 1An 8-year-old male patient was first admitt...