Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis - PubMed (original) (raw)

Case Reports

. 2011 Feb 15;52(4):e99-e102.

doi: 10.1093/cid/ciq215.

Brian Schwartz, Amy P Hsu, David J Miranda, Patricia A Valdez, Danielle Fink, Karen P Lau, Debra Long-Priel, Douglas B Kuhns, Gulbu Uzel, Stefania Pittaluga, Susan Hoover, John N Galgiani, Steven M Holland

Affiliations

• PMID: 21258095
• PMCID: PMC3060907
• DOI: 10.1093/cid/ciq215

Case Reports

Interleukin-12 receptor β1 deficiency predisposing to disseminated Coccidioidomycosis

Donald C Vinh et al. Clin Infect Dis. 2011.

Abstract

Severe disseminated Coccidioides is rare while localized, contained disease is common. We report a family with disseminated coccidioidomycosis due to a novel homozygous C186Y mutation in interleukin (IL)-12 receptor β1. This family confirms the centrality of the IL-12/IFN-γ axis to human immunity to Coccidioides spp.

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Figures

Figure 1.

A, Abundant Coccidioides species spherules in lymph node. B, Normal activated T cells showing robust cell surface display of IL12Rβ1. C, Offset histograms showing progressive STAT4 phosphorylation in response to added IL-12 (isotype control [bottom], 0, 2.5, 5, and 10 [top] ng/mL, respectively). D, Activated T lymphocytes from patient 1 failed to express IL-12Rβ1 on the cell surface. E, Phosphorylation of STAT4 is absent in lymphocytes from patient 1 at the same IL-12 doses used in C.

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References

1. 1. Galgiani JN, Ampel NM, Blair JE, et al. Coccidioidomycosis. Clin Infect Dis. 2005;41:1217–23. - PubMed
2. 1. Cox RA, Magee DM. Coccidioidomycosis: host response vaccine development. Clin Microbiol Rev. 2004;17:804–39. - PMC - PubMed
3. 1. Vinh DC, Masannat F, Dzioba RB, Galgiani JN, Holland SM. Refractory disseminated coccidioidomycosis and mycobacteriosis in interferon†Î3-receptor 1 deficiency. Clin Infect Dis. 2009;49:e62–5. - PMC - PubMed
4. 1. Fieschi C, Dupuis S, Catherinot E, et al. Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptorβ1 deficiency. J Exp Med. 2003;197:527–35. - PMC - PubMed
5. 1. Beaman L. Effects of recombinant gamma interferon and tumor necrosis factor on in vitro interactions of human mononuclear phagocytes with Coccidioides immitis. Infect Immun. 1991;59:4227–9. - PMC - PubMed

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