Mehmet Kılıç

Beyond Recurrent Infections: Immune Dysregulation Manifestations, Genotype–phenotype Heterogeneity, and Three Novel BTK Variants in X-linked Agammaglobulinemia

X-linked agammaglobulinemia (XLA) is an inborn error of immunity caused by BTK gene mutations, characterized by hypogammaglobulinemia and recurrent infections. This study evaluates a long-term pediatric cohort to assess clinical spectrum, therapeutic outcomes, and molecular findings. We retrospectively reviewed clinic...