2009
DOI: 10.1086/605532
|View full text |Cite
|
Sign up to set email alerts
|

Refractory Disseminated Coccidioidomycosis and Mycobacteriosis in Interferon‐γ Receptor 1 Deficiency

Abstract: Severe coccidioidomycosis is rare and specific genetic susceptibility unidentified. We report a patient with disseminated recalcitrant coccidioidomycosis with autosomal dominant interferon (IFN)-γ receptor 1 deficiency due to a heterozygous IFNGR1 818del4 mutation. Therefore, the IL-12/IFN-γ axis appears to be critical for control of coccidioidomycosis.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1
1

Citation Types

0
76
0
2

Year Published

2014
2014
2023
2023

Publication Types

Select...
5
5

Relationship

0
10

Authors

Journals

citations
Cited by 115 publications
(78 citation statements)
references
References 21 publications
0
76
0
2
Order By: Relevance
“…Specifically, the autosomal dominant form of IFN-gR1 deficiency causes partial receptor deficiency and predisposes to coccidioidomycosis and histoplasmosis (Zerbe and Holland 2005;Vinh et al 2009b). The defect is a result of an interstitial deletion that creates a signal-impaired but cell-surfacepersisting molecule that exerts a dominant-negative effect on IFN-g cellular responses of the wild-type receptor.…”
Section: Disorders In Cytokine Signaling Il-12/ifn-g Signalingmentioning
confidence: 99%
“…Specifically, the autosomal dominant form of IFN-gR1 deficiency causes partial receptor deficiency and predisposes to coccidioidomycosis and histoplasmosis (Zerbe and Holland 2005;Vinh et al 2009b). The defect is a result of an interstitial deletion that creates a signal-impaired but cell-surfacepersisting molecule that exerts a dominant-negative effect on IFN-g cellular responses of the wild-type receptor.…”
Section: Disorders In Cytokine Signaling Il-12/ifn-g Signalingmentioning
confidence: 99%
“…Patients with a mutation in the IL-12 or IFN-␥ receptors are predisposed to disseminated coccidioidomycosis (49). Numbers of polyfunctional CD4 ϩ T cells that produce IL-2, IFN-␥, and TNF-␣ in peripheral blood mononuclear cells obtained from naturally immune donors are significantly higher than numbers in nonimmune donors (50).…”
Section: Discussionmentioning
confidence: 99%
“…These included NEMO deficiency (one patient) (13) and defects in the IFN-g/IL-12 pathway: IFN-g receptor deficiency (one patient) (14), IL-12 receptor deficiency (one patient) (15), and autoantibodies to IFN-g (one patient) (16). Disseminated disease has been reported in a patient with a known GATA2 mutation (3) and a patient whose clinical history is compatible with GATA2 deficiency (4).…”
Section: Review Of the Literaturementioning
confidence: 99%