Deep intronic mis-splicing mutation in JAK3 gene underlies T-B+NK- severe combined immunodeficiency phenotype

Clin Immunol. 2016 Feb:163:91-5. doi: 10.1016/j.clim.2016.01.001. Epub 2016 Jan 6.

Abstract

Severe combined immune deficiency (SCID) is a group of genetically heterogeneous diseases caused by an early block in T cell differentiation and present with life threatening infections, often within the first year of life. Janus kinase (JAK)3 gene mutations have been found to cause autosomal recessive T-B+ SCID phenotype. In this study we describe three patients with a novel deep intronic mis-splicing mutation in JAK3 as a cause of T-B+NK- SCID highlighting the need for careful evaluation of intronic regulatory elements of known genes associated with clearly defined clinical phenotypes. We present the cases and discuss the current literature.

Keywords: JAK3; Mis-splicing mutations; SCID.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • B-Lymphocytes / immunology*
  • Consanguinity
  • Female
  • Humans
  • Infant
  • Introns / genetics*
  • Janus Kinase 3 / genetics*
  • Janus Kinase 3 / immunology
  • Killer Cells, Natural / immunology*
  • Male
  • Mutation
  • Phenotype
  • RNA Splicing / genetics*
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology
  • T-Lymphocytes / immunology*

Substances

  • JAK3 protein, human
  • Janus Kinase 3