Invasive Fungal Infection in Primary Immunodeficiencies Other Than Chronic Granulomatous Disease


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.


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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Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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The Laboratory of Human Genetics of Infectious Diseases and Infectious Diseases Unit were supported by the French National Research Agency (ANR) under HGDIFD (ANR-14-CE15-0006).

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Correspondence to A. Garraffo or F. Lanternier.

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Conflict of Interest

Olivier Lortholary reports personal fees from Pfizer, MSD, Gilead, and Astellas.

Fanny Lanternier reports personal fees from Basilea, MSD, and Gilead.

Aurelie Garraffo, Benoît Pilmis, Julie Toubiana, A. Puel, Nizar Mahlaoui, and S. Blanche declare that they have no conflict of interest.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Pediatric Fungal Infection

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Garraffo, A., Pilmis, B., Toubiana, J. et al. Invasive Fungal Infection in Primary Immunodeficiencies Other Than Chronic Granulomatous Disease. Curr Fungal Infect Rep 11, 25–34 (2017).

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  • Primary immunodeficiencies (PIDs)
  • Invasive fungal diseases
  • Pediatric fungal infections
  • Chronic mucocutaneous candidiasis
  • Dimorphic fungi
  • CARD9
  • STAT1
  • STAT3
  • Opportunistic infections