Transient myelodysplastic syndrome in X-linked agammaglobulinemia with a novel Btk mutation.

Abstract

X-linked agammaglobulinemia (XLA) is a rare disorder in which recurrent infections occur due to low serum globulins and circulating B lymphocytes caused by a mutation in the Bruton tyrosine kinase (Btk) gene. While myelodysplastic syndrome (MDS) associated with low B lymphocyte counts has been described, clonal cytogenetic abnormalities in confirmed cases of XLA have never been reported. We describe a case of XLA with a novel Btk mutation who also had a persistent clonal population in the bone marrow with abnormal cytogenetics in multiple chromosomes that resolved 1(1/2) years after treatment with IVIG, mimicking a picture of transient MDS.

DOI: 10.1002/pbc.21716

Cite this paper

@article{Narula2008TransientMS, title={Transient myelodysplastic syndrome in X-linked agammaglobulinemia with a novel Btk mutation.}, author={Gaurav Narula and Zinet Currimbhoy}, journal={Pediatric blood & cancer}, year={2008}, volume={51 6}, pages={826-8} }