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Current Fungal Infection Reports
Published in: Current Fungal Infection Reports 1/2017

01-03-2017 | Pediatric Fungal Infections (T Lehrnbecher, Section Editor)

Invasive Fungal Infection in Primary Immunodeficiencies Other Than Chronic Granulomatous Disease

Authors: A. Garraffo, B. Pilmis, J. Toubiana, A. Puel, N. Mahlaoui, S. Blanche, O. Lortholary, F. Lanternier

Published in: Current Fungal Infection Reports | Issue 1/2017

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Abstract

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 gain-of-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-γ axis can predispose to cryptococcosis, and dimorphic fungal infections.

Summary

Patients developing invasive fungal infections including candidiasis, aspergillosis, cryptococcosis, phaeohyphomycosis, 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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Metadata
Title
Invasive Fungal Infection in Primary Immunodeficiencies Other Than Chronic Granulomatous Disease
Authors
A. Garraffo
B. Pilmis
J. Toubiana
A. Puel
N. Mahlaoui
S. Blanche
O. Lortholary
F. Lanternier
Publication date
01-03-2017
Publisher
Springer US
Published in
Current Fungal Infection Reports / Issue 1/2017
Print ISSN: 1936-3761
Electronic ISSN: 1936-377X
DOI
https://doi.org/10.1007/s12281-017-0273-x
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