Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency

Pediatr Infect Dis J. 2001 May;20(5):551-3. doi: 10.1097/00006454-200105000-00021.

Abstract

A 10-year-old boy had chronic diarrhea, abdominal pain, severe weight loss and hepatomegaly; multiple enlarged para-aortic and mesenteric lymph nodes. Mycobacterium fortuitum-chelonae complex was identified in the culture of the lymph nodes. Interleukin-12 receptor beta 1 expression could not be observed in phytohemagglutinin-driven T cell blasts. A homozygous missense interleukin-12 receptor beta 1 mutation was found (R173P).

Publication types

  • Case Reports

MeSH terms

  • Child
  • Flow Cytometry
  • Humans
  • Lymph Nodes / pathology
  • Male
  • Mutation / genetics
  • Mycobacterium Infections, Nontuberculous / immunology*
  • Mycobacterium Infections, Nontuberculous / pathology*
  • Mycobacterium fortuitum / immunology*
  • Receptors, Interleukin / deficiency*
  • Receptors, Interleukin / immunology*
  • Receptors, Interleukin-12

Substances

  • Receptors, Interleukin
  • Receptors, Interleukin-12