X-Linked agammaglobulinemia in a child with Klinefelter's syndrome

J Clin Immunol. 2014 Feb;34(2):142-5. doi: 10.1007/s10875-013-9986-y. Epub 2014 Jan 30.

Abstract

Bruton's agammaglobulinemia is a rare X-linked humoral immunodeficiency manifesting with recurrent bacterial infections early in life. Klinefelter's syndrome caused by an additional X chromosome is the most common sex chromosome disorder. A previously unreported association of these two conditions is described here.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormal Karyotype
  • Agammaglobulinaemia Tyrosine Kinase
  • Agammaglobulinemia / complications*
  • Agammaglobulinemia / diagnosis
  • Agammaglobulinemia / drug therapy
  • Child
  • Chromosome Banding
  • DNA Mutational Analysis
  • Genetic Diseases, X-Linked / complications*
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / drug therapy
  • Humans
  • Immunoglobulins, Intravenous
  • Klinefelter Syndrome / complications*
  • Klinefelter Syndrome / diagnosis
  • Mutation, Missense
  • Protein-Tyrosine Kinases / genetics
  • Treatment Outcome

Substances

  • Immunoglobulins, Intravenous
  • Protein-Tyrosine Kinases
  • Agammaglobulinaemia Tyrosine Kinase

Supplementary concepts

  • Bruton type agammaglobulinemia