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

F Staehelin; T Kühne

doi:10.1046/j.1365-2257.2000.00295.x

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

Clin Lab Haematol. 2000 Apr;22(2):123-5. doi: 10.1046/j.1365-2257.2000.00295.x.

Authors

F Staehelin¹, T Kühne

Affiliation

¹ Division of Hematology/Oncology, University Children's Hospital Basel, Römergasse 8, CH-4005 Basel, Switzerland.

PMID: 10792406
DOI: 10.1046/j.1365-2257.2000.00295.x

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.

Publication types

Case Reports

MeSH terms

Agammaglobulinaemia Tyrosine Kinase
Agammaglobulinemia / drug therapy
Agammaglobulinemia / genetics*
Child
DNA Mutational Analysis
Exons
Frameshift Mutation*
Humans
Immunoglobulins, Intravenous / administration & dosage
Male
Phenotype
Polymorphism, Single-Stranded Conformational
Protein-Tyrosine Kinases / genetics*
Sex Chromosome Aberrations
X Chromosome*

Substances

Immunoglobulins, Intravenous
Protein-Tyrosine Kinases
Agammaglobulinaemia Tyrosine Kinase
BTK protein, human