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