Identification of a new Bruton's tyrosine kinase (BTK) mutation associated with a mild phenotype in a child with X-linked agammaglobulinemia (XLA).
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.
Staehelin
F
F
Division of Hematology/Oncology, University Children's Hospital Basel, Römergasse 8, CH-4005 Basel, Switzerland.
Kühne
T
T
D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000188:drug therapy / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000008:administration & dosage; D008297:Male; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D012729:Sex Chromosome Aberrations; D014960:X Chromosome
D016756:Immunoglobulins, Intravenous; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human