X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan

J Pak Med Assoc. 2017 Mar;67(3):471-473.

Abstract

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan.

Keywords: Bruton type agammaglobulinemia, Bruton tyrosine Kinase mutation, Whole exome sequencing, Diarrhoea..

Publication types

  • Case Reports

MeSH terms

  • Agammaglobulinaemia Tyrosine Kinase / genetics*
  • Agammaglobulinemia* / diagnosis
  • Agammaglobulinemia* / drug therapy
  • Agammaglobulinemia* / genetics
  • Agammaglobulinemia* / physiopathology
  • Child, Preschool
  • DNA Mutational Analysis
  • Genetic Diseases, X-Linked* / diagnosis
  • Genetic Diseases, X-Linked* / drug therapy
  • Genetic Diseases, X-Linked* / genetics
  • Genetic Diseases, X-Linked* / physiopathology
  • Humans
  • Immunoglobulins, Intravenous / therapeutic use
  • Male
  • Mutation / genetics
  • Pakistan

Substances

  • Immunoglobulins, Intravenous
  • Agammaglobulinaemia Tyrosine Kinase
  • BTK protein, human

Supplementary concepts

  • Bruton type agammaglobulinemia