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Published on: February 18, 2015
Primary immunodeficiencies underlying fungal infections
Fanny Lanternier1, Sophie Cypowyj, Capucine Picard
1aLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U980 Necker Medical School, Imagine Institute and Paris Descartes University, Sorbonne Paris Cité bInfectious Diseases and Tropical Medicine Unit, Necker-Enfants Malades Hospital, AP-HP and Paris Descartes University cPasteur Institute, National Reference Center of Invasive Mycoses and Antifungals, Paris, France dSt Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, New York, USA eStudy Center for Immunodeficiency fPediatric Hematology-Immunology Unit, Necker Enfants-Malades Hospital, AP-HP, and Paris Descartes University, Sorbonne Paris Cité, Paris, France.
Purpose Of Review:
We 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 Findings:
An 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-γ 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.
Summary:
CMC, 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.
Insights
Primary immunodeficiencies (PIDs) cause various fungal infections. Physicians should suspect PIDs in patients with fungal diseases, especially in children and young adults without known risk factors.
Area of Science:
- Immunology
- Infectious Diseases
- Genetics
Background:
- Primary immunodeficiencies (PIDs) are increasingly recognized as underlying causes of fungal infections.
- Fungal infections in children and young adults warrant investigation for underlying PIDs.
Purpose of the Study:
- To review PIDs associated with superficial and invasive fungal infections.
- To emphasize the link between specific fungal infections and corresponding single-gene inborn errors of immunity.
- To propose that unknown inborn errors of immunity may cause fungal infections in some patients.
Main Methods:
- Literature review of primary immunodeficiencies and fungal infections.
- Analysis of genetic defects associated with fungal disease susceptibility.
- Correlation of specific fungal infections with PIDs.
Main Results:
- PIDs like chronic granulomatous disease, severe congenital neutropenia, and leukocyte adhesion deficiency predispose to invasive aspergillosis and candidiasis.
- Inborn errors of interferon-γ immunity are linked to endemic mycoses.
- Defects in interleukin-17 and CARD9 immunity are associated with chronic mucocutaneous candidiasis and deep dermatophytosis, respectively.
Conclusions:
- Chronic mucocutaneous candidiasis, invasive candidiasis, invasive aspergillosis, deep dermatophytosis, pneumocystosis, and endemic mycoses can be caused by PIDs.
- Specific fungal infections suggest particular PIDs.
- Inborn errors of immunity should be investigated in pediatric and young adult patients with fungal diseases, particularly when risk factors are absent.
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