期刊
CURRENT FUNGAL INFECTION REPORTS
卷 11, 期 1, 页码 25-34出版社
SPRINGER
DOI: 10.1007/s12281-017-0273-x
关键词
Primary immunodeficiencies (PIDs); Invasive fungal diseases; Pediatric fungal infections; Chronic mucocutaneous candidiasis; Dimorphic fungi; CARD9; STAT1; STAT3; Opportunistic infections
资金
- French National Research Agency (ANR) under HGDIFD [ANR-14-CE150006]
Purpose of review We aimed to review invasive fungal infections complicating primary immunodeficiencies (PID). Recent findings Several PID predisposing to fungal infections were recently deciphered. CARD9 deficiency selectively predisposes to fungal infections including candidiasis, aspergillosis, deep dermatophytosis, and phaeohyphomycosis, with frequent central nervous system location, especially after Candida infection. Patients with heterozygous STAT1 gainof- function mutations are mostly predisposed to chronic mucocutaneous candidiasis but may also display, even though less frequently, invasive fungal infections. Aspergillosis complicating STAT3 deficiency is also a major concern in patients with lung cavities. Antifungal prophylaxis is recommended in this first group of patients. Previously well- reported PID are known to predispose to fungal infections, such as genetic defects impairing the IL-12/ IFN-gamma axis can predispose to cryptococcosis, and dimorphic fungal infections. Summary Patients developing invasive fungal infections including candidiasis, aspergillosis, cryptococcosis, phaeohyphomy cosis, pneumocystosis, or disseminated infections caused by dimorphic fungi, without known underlying risk factors, should be explored immunogenetically in order to diagnose primary immunodeficiencies, even in the absence of previous other infectious episodes.
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