Invasive Fungal Infection in Primary Immunodeficiencies Other Than Chronic Granulomatous Disease |
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| Authors: | A. Garraffo B. Pilmis J. Toubiana A. Puel N. Mahlaoui S. Blanche O. Lortholary F. Lanternier |
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| Affiliation: | 1.Infectious Diseases and Tropical Medicine Unit, Antimicrobial Stewardship Team, Necker-Enfants Malades Hospital,AP-HP and Paris Descartes University,Paris,France;2.Pediatric unit and Antimicrobial Stewardship Team, Robert Debré Hospital,AP-HP and Paris Diderot University,Paris,France;3.Antimicrobial Stewardship Team, Microbiology Unit,Groupe Hospitalier Paris Saint Joseph,Paris,France;4.General Pediatric and Infectious Diseases Unit, Antimicrobial Stewardship Team, Necker Enfants-Malades Hospital,AP-HP Paris Descartes University,Paris,France;5.Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Medical School,Imagine Institute and Paris Descartes University,Paris,France;6.Pediatric Hematology-Immunology Unit, Necker Enfants-Malades Hospital,AP-HP, and Paris Descartes University,Paris,France;7.Institut Pasteur, Unité de Mycologie Moléculaire, CNRS URA3012,National Reference Center of Invasive Mycoses and Antifungals,Paris,France |
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| Abstract: | ![]()
Purpose of reviewWe aimed to review invasive fungal infections complicating primary immunodeficiencies (PID).Recent findingsSeveral 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.SummaryPatients 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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