Mycobacterium fortuitum-chelonae complex infection in a child with complete interleukin-12 receptor beta 1 deficiency.
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).
Aksu
G
G
Department of Pediatrics, The Medical School, Ege University, Izmir, Turkey.
Tirpan
C
C
Cavuşoğlu
C
C
Soydan
S
S
Altare
F
F
Casanova
J L
JL
Kutukculer
N
N
D002648:Child; D005434:Flow Cytometry; D006801:Humans; D008198:Lymph Nodes / Q000473:pathology; D008297:Male; D009154:Mutation / Q000235:genetics; D009165:Mycobacterium Infections, Nontuberculous / Q000276:immunology* / Q000473:pathology*; D019907:Mycobacterium fortuitum / Q000276:immunology*; D018123:Receptors, Interleukin / Q000172:deficiency* / Q000276:immunology*; D053707:Receptors, Interleukin-12
D018123:Receptors, Interleukin; D053707:Receptors, Interleukin-12