X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase

J Clin Immunol. 2021 May;41(4):825-828. doi: 10.1007/s10875-020-00962-9. Epub 2021 Jan 27.
No abstract available

Publication types

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

MeSH terms

  • Agammaglobulinaemia Tyrosine Kinase / chemistry
  • Agammaglobulinaemia Tyrosine Kinase / genetics*
  • Agammaglobulinemia / complications
  • Agammaglobulinemia / diagnosis*
  • Agammaglobulinemia / genetics*
  • Amino Acid Substitution
  • Child, Preschool
  • DNA Mutational Analysis
  • Genes, X-Linked*
  • Genetic Association Studies
  • Genetic Diseases, X-Linked / complications
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Protein Interaction Domains and Motifs / genetics*

Substances

  • Agammaglobulinaemia Tyrosine Kinase
  • BTK protein, human

Supplementary concepts

  • Bruton type agammaglobulinemia