Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency.
Severe coccidioidomycosis is rare, and specific genetic susceptibility to the disease remains unidentified. We describe a patient with disseminated recalcitrant coccidioidomycosis with autosomal dominant interferon-gamma receptor 1 deficiency caused by a heterozygous IFNGR1 818del4 mutation. Therefore, the interleukin-12/interferon-gamma axis appears to be critical for control of coccidioidomycosis.
Vinh
Donald C
DC
Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892-1684, USA.
Masannat
Fares
F
Dzioba
Robert B
RB
Galgiani
John N
JN
Holland
Steven M
SM
D000900:Anti-Bacterial Agents / Q000494:pharmacology / Q000627:therapeutic use; D000935:Antifungal Agents / Q000494:pharmacology / Q000627:therapeutic use; D003047:Coccidioidomycosis / Q000188:drug therapy* / Q000235:genetics / Q000276:immunology*; D024881:Drug Resistance, Bacterial; D025141:Drug Resistance, Fungal; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D016867:Immunocompromised Host; D007371:Interferon-gamma / Q000235:genetics / Q000378:metabolism; D018664:Interleukin-12 / Q000235:genetics / Q000378:metabolism; D008297:Male; D009154:Mutation; D009164:Mycobacterium Infections / Q000188:drug therapy* / Q000235:genetics / Q000276:immunology*; D017471:Receptors, Interferon / Q000172:deficiency* / Q000235:genetics*; D017211:Treatment Failure; D055815:Young Adult; D000096743:Interferon gamma Receptor
D000900:Anti-Bacterial Agents; D000935:Antifungal Agents; D007371:Interferon-gamma; D018664:Interleukin-12; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor
Ann N Y Acad Sci. 2007 Sep;1111:19-34
17395731
Ann N Y Acad Sci. 2007 Sep;1111:245-58
17363432
Infect Immun. 2008 Dec;76(12):5553-64
18852250
Clin Infect Dis. 2005 Aug 15;41(4):e31-7
16028144
J Infect Dis. 1984 Mar;149(3):404-12
6715897
Infect Immun. 1977 Sep;17(3):580-5
332628
Blood. 2004 Jan 15;103(2):673-5
12947000
Int J Tuberc Lung Dis. 1998 Jan;2(1):62-8
9562113
Clin Infect Dis. 2004 Mar 15;38(6):910-2
14999639
J Clin Invest. 2005 Sep;115(9):2480-8
16127458
Infect Immun. 1979 Mar;23(3):681-5
313369
Immunity. 2006 Nov;25(5):745-55
17088085
Pediatr Infect Dis J. 2008 Jul;27(7):673
18520441
J Clin Microbiol. 1983 Sep;18(3):529-34
6415091
Clin Infect Dis. 2005 Aug 15;41(4):e38-41
16028145
Immunol Rev. 2005 Feb;203:38-47
15661020
Tuberculosis (Edinb). 2007 Jul;87(4):303-11
17392024
Arthritis Rheum. 2004 Jun;50(6):1959-66
15188373
J Immunol. 2005 Oct 1;175(7):4769-76
16177125
Clin Infect Dis. 2004 Jan 1;38(1):e10-4
14679469
Hum Genet. 2008 Jun;123(5):477-84
18414898
Immunol Allergy Clin North Am. 2008 May;28(2):235-58, vii
18424331