Susceptibility to mycobacterial infections due to interferon-gamma and interleukin-12 pathway defects.
A case of interferon-gamma (IFN-gamma)/interleukin-12 (IL-12) pathway defect is presented. Pathophysiology, clinical characteristics, diagnostic test, and case management are reviewed. Clinical Pearls and Pitfalls include: (1) A high probability of a defect in the IFN-gamma/IL-12 cascade exists in patients with disseminated or recurrent infection due to poorly pathogenic mycobacteria or systemic infections caused by non-typhi Salmonella species that are persistent and recurrent despite antibiotic therapy. (2) Although less frequent, patients with impaired IFN-gamma/IL-12 mediated immunity are more susceptible to cytomegalovirus, human herpesvirus 8, herpes simplex virus, Listeria monocytogenes, and Histoplasma capsulatum.
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National Institutes of Health, NIAID, 9000 Rockville Pike, 10/11N315 MSC 1892, Bethesda, MD 20892, USA.
D002648:Child; D020022:Genetic Predisposition to Disease; D006801:Humans; D018664:Interleukin-12 / Q000235:genetics*; D008297:Male; D015270:Mycobacterium avium-intracellulare Infection / Q000235:genetics*; D010019:Osteomyelitis / Q000382:microbiology*; D017471:Receptors, Interferon / Q000235:genetics*; D012008:Recurrence; D012480:Salmonella Infections / Q000235:genetics*; D000096743:Interferon gamma Receptor
D018664:Interleukin-12; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor