title: 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.
authors: Department of Pediatrics, INHS Asvini, Colaba, Mumbai, India. drgauravnarula@gmail.com
authors: Gaurav
authors: G
authors: Narula
authors: Zinet
authors: Z
authors: Currimbhoy
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D001853:Bone Marrow / Q000187:drug effects / Q000473:pathology; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D007155:Immunologic Factors / Q000627:therapeutic use; D008297:Male; D009154:Mutation / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011505:Protein-Tyrosine Kinases / Q000235:genetics*
chemical_list: D016756:Immunoglobulins, Intravenous; D007155:Immunologic Factors; D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human