期刊
CURRENT OPINION IN PEDIATRICS
卷 25, 期 6, 页码 736-747出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MOP.0000000000000031
关键词
autoantibodies against GM-CSF; autoantibodies against IFN-; Candida central nervous system infection; candidiasis; CARD9; chronic mucocutaneous candidiasis; deep dermatophytosis; endemic mycosis; IFN-; interleukin-12; interleukin-17; invasive aspergillosis; NADPH oxidase complex; pneumocystosis; primary immunodeficiencies; STAT1; superficial and invasive fungal diseases; X-linked CD40L deficiency
类别
资金
- ANR [GENCMCD 11-BSV3-005-01]
- National Center for Advancing Translational Sciences, National Institutes of Health Clinical and Translational Science Award (CTSA) program [UL1TR000043]
- Rockefeller University
- St. Giles Foundation
- Rockefeller University, INSERM
- Paris Descartes University French Government Investissement d'Avenir program
- Laboratoire d'Excellence 'Integrative Biology of Emerging Infectious Diseases' [ANR-10-LABX-62-IBEID]
- CMIT (French Faculties College of Infectious Diseases)
- INSERM
Purpose of reviewWe review the primary immunodeficiencies (PIDs) underlying an increasing variety of superficial and invasive fungal infections. We also stress that the occurrence of such fungal infections should lead physicians to search for the corresponding single-gene inborn errors of immunity. Finally, we suggest that other fungal infections may also result from hitherto unknown inborn errors of immunity, at least in some patients with no known risk factors.Recent findingsAn increasing number of PIDs are being shown to underlie fungal infectious diseases in children and young adults. Inborn errors of the phagocyte NADPH oxidase complex (chronic granulomatous disease), severe congenital neutropenia (SCN) and leukocyte adhesion deficiency type I confer a predisposition to invasive aspergillosis and candidiasis. More rarely, inborn errors of interferon- immunity underlie endemic mycoses. Inborn errors of interleukin-17 immunity have recently been shown to underlie chronic mucocutaneous candidiasis (CMC), while inborn errors of caspase recruitment domain-containing protein 9 (CARD9) immunity underlie deep dermatophytosis and invasive candidiasis.SummaryCMC, invasive candidiasis, invasive aspergillosis, deep dermatophytosis, pneumocystosis, and endemic mycoses can all be caused by PIDs. Each type of infection is highly suggestive of a specific type of PID. In the absence of overt risk factors, single-gene inborn errors of immunity should be sought in children and young adults with these and other fungal diseases.
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