title: Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon-gamma receptor 1 deficiency.
abstract: 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.
authors.affiliation: Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892-1684, USA.
authors.forename: Donald C
authors.initials: DC
authors.lastname: Vinh
authors.forename: Fares
authors.initials: F
authors.lastname: Masannat
authors.forename: Robert B
authors.initials: RB
authors.lastname: Dzioba
authors.forename: John N
authors.initials: JN
authors.lastname: Galgiani
authors.forename: Steven M
authors.initials: SM
authors.lastname: Holland
mesh_terms: 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
chemical_list: D000900:Anti-Bacterial Agents; D000935:Antifungal Agents; D007371:Interferon-gamma; D018664:Interleukin-12; D017471:Receptors, Interferon; D000096743:Interferon gamma Receptor
references.citation: Ann N Y Acad Sci. 2007 Sep;1111:19-34
references.pmid: 17395731
references.citation: Ann N Y Acad Sci. 2007 Sep;1111:245-58
references.pmid: 17363432
references.citation: Infect Immun. 2008 Dec;76(12):5553-64
references.pmid: 18852250
references.citation: Clin Infect Dis. 2005 Aug 15;41(4):e31-7
references.pmid: 16028144
references.citation: J Infect Dis. 1984 Mar;149(3):404-12
references.pmid: 6715897
references.citation: Infect Immun. 1977 Sep;17(3):580-5
references.pmid: 332628
references.citation: Blood. 2004 Jan 15;103(2):673-5
references.pmid: 12947000
references.citation: Int J Tuberc Lung Dis. 1998 Jan;2(1):62-8
references.pmid: 9562113
references.citation: Clin Infect Dis. 2004 Mar 15;38(6):910-2
references.pmid: 14999639
references.citation: J Clin Invest. 2005 Sep;115(9):2480-8
references.pmid: 16127458
references.citation: Infect Immun. 1979 Mar;23(3):681-5
references.pmid: 313369
references.citation: Immunity. 2006 Nov;25(5):745-55
references.pmid: 17088085
references.citation: Pediatr Infect Dis J. 2008 Jul;27(7):673
references.pmid: 18520441
references.citation: J Clin Microbiol. 1983 Sep;18(3):529-34
references.pmid: 6415091
references.citation: Clin Infect Dis. 2005 Aug 15;41(4):e38-41
references.pmid: 16028145
references.citation: Immunol Rev. 2005 Feb;203:38-47
references.pmid: 15661020
references.citation: Tuberculosis (Edinb). 2007 Jul;87(4):303-11
references.pmid: 17392024
references.citation: Arthritis Rheum. 2004 Jun;50(6):1959-66
references.pmid: 15188373
references.citation: J Immunol. 2005 Oct 1;175(7):4769-76
references.pmid: 16177125
references.citation: Clin Infect Dis. 2004 Jan 1;38(1):e10-4
references.pmid: 14679469
references.citation: Hum Genet. 2008 Jun;123(5):477-84
references.pmid: 18414898
references.citation: Immunol Allergy Clin North Am. 2008 May;28(2):235-58, vii
references.pmid: 18424331