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Review Open access Aug 2026

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

This study evaluates a long-term pediatric cohort to assess clinical spectrum, therapeutic outcomes, and molecular findings for XLA, an inborn error of immunity caused by BTK gene mutations characterized by hypogammaglobulinemia and recurrent infections.

Ozan Kapçay, A. Sen, Filiz Demir Şahin et al. · 0 citations

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