Identification of a new Bruton’s tyrosine kinase (BTK) mutation associated with a mild phenotype in a child with X-linked agammaglobulinemia (XLA)

Abstract

This study reports a new X-linked agammaglobulinemia (XLA) mutation and its phenotypic features in a 6(1/2)-year-old boy. Different clinically defined subtypes of XLA may exist according to different genetic alterations and to other defect signalling molecules or pathways of B cell maturation.