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

Pediatr Blood Cancer. 2008 Dec;51(6):826-8. doi: 10.1002/pbc.21716.

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.

Publication types

  • Case Reports

MeSH terms

  • Agammaglobulinaemia Tyrosine Kinase
  • Agammaglobulinemia / complications
  • Agammaglobulinemia / drug therapy
  • Agammaglobulinemia / genetics*
  • Bone Marrow / drug effects
  • Bone Marrow / pathology
  • Child, Preschool
  • Chromosomes, Human, X / genetics*
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / drug therapy
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Immunoglobulins, Intravenous / therapeutic use
  • Immunologic Factors / therapeutic use
  • Male
  • Mutation / genetics*
  • Myelodysplastic Syndromes / complications
  • Myelodysplastic Syndromes / drug therapy
  • Myelodysplastic Syndromes / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Protein-Tyrosine Kinases / genetics*

Substances

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