A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis

Clin Immunol. 2017 Oct:183:198-200. doi: 10.1016/j.clim.2017.09.007. Epub 2017 Sep 14.

Abstract

JAK3 is a tyrosine kinase essential for signaling downstream of the common gamma chain subunit shared by multiple cytokine receptors. JAK3 deficiency results in T-B+NK- severe combined immune deficiency (SCID). We report a patient with SCID due to a novel mutation in the JAK3 JH4 domain. The function of the JH4 domain remains unknown. This is the first report of a missense mutation in the JAK3 JH4 domain, thereby demonstrating the importance of the JH4 domain of JAK3 in host immunity.

Keywords: JAK3; Severe combined immunodeficiency.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Janus Kinase 3 / genetics
  • Janus Kinase 3 / metabolism*
  • Mutation
  • Osteomyelitis / complications
  • Osteomyelitis / genetics*
  • Protein Domains
  • Severe Combined Immunodeficiency / complications
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / pathology
  • Spine / pathology*

Substances

  • JAK3 protein, human
  • Janus Kinase 3