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Human inborn errors of immunity underlying superficial or invasive candidiasis

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Abstract

Candida species, including C. albicans in particular, can cause superficial or invasive disease, often in patients with known acquired immunodeficiencies or iatrogenic conditions. The molecular and cellular basis of these infections in patients with such risk factors remained largely elusive, until the study of inborn errors of immunity clarified the basis of the corresponding inherited and “idiopathic” infections. Superficial candidiasis, also known as chronic mucocutaneous candidiasis (CMC), can be caused by inborn errors of IL-17 immunity. Invasive candidiasis can be caused by inborn errors of CARD9 immunity. In this chapter, we review both groups of inborn errors of immunity, and discuss the contribution of these studies to the deciphering of the critical mechanisms of anti-Candida immunity in patients with other conditions.

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Acknowledgements

I warmly thank Jean-Laurent Casanova and the members of the HGID laboratory for helpful discussions. This work was supported by the St. Giles Foundation, the Rockefeller University, INSERM, Paris University, HHMI, the French National Research Agency (ANR) under the “Investissement d’avenir” program (Grant Number ANR-10-IAHU-01), the “LTh-MSMD-CMCD” project (Grant ANR-18-CE93-0008-01), the “HGDIFD” project (Grant Number ANR-14-CE15-0006-01), the “EURO-CMC” project (Grant Number ANR-14-RARE-0005-02) and the NIH (grant R01 AI127564-01).

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  1. Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Necker Branch, 75015, Paris, France

    Anne Puel

  2. Imagine Institute, Paris University, 75015, Paris, France

    Anne Puel

  3. St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, Rockefeller Branch, New York, NY, 10065, USA

    Anne Puel

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Puel, A. Human inborn errors of immunity underlying superficial or invasive candidiasis. Hum Genet 139, 1011–1022 (2020). https://doi.org/10.1007/s00439-020-02141-7

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