G. Aksu et al., Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency, PEDIAT INF, 20(5), 2001, pp. 551-553
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 obs
erved in phytohemagglutinin-driven T cell blasts. A homozygous missense int
erleukin-12 receptor beta 1 mutation was found (R173P).