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


Aksu G. , TIRPAN C., Cavusoglu C. , SOYDAN S., ALTARE F., CASANOVA J., ...More

PEDIATRIC INFECTIOUS DISEASE JOURNAL, vol.20, no.5, pp.551-553, 2001 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 5
  • Publication Date: 2001
  • Doi Number: 10.1097/00006454-200105000-00021
  • Title of Journal : PEDIATRIC INFECTIOUS DISEASE JOURNAL
  • Page Numbers: pp.551-553

Abstract

A 10-year-old boy had chronic diarrhea, abdominal pain, severe weight loss and hepatomegaly; multiple enlarged pare-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).