Laboratory of Human Genetics of Infectious Diseases, INSERM U1163, Necker Hospital for Sick Children, Necker Branch, 75015, Paris, France.
Imagine Institute, Paris University, 75015, Paris, France.
Hum Genet. 2020 Jun;139(6-7):1011-1022. doi: 10.1007/s00439-020-02141-7. Epub 2020 Mar 2.
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.
念珠菌属物种,包括特别是白色念珠菌,可引起浅表或侵袭性疾病,通常发生在已知获得性免疫缺陷或医源性疾病患者中。在这些具有危险因素的患者中,这些感染的分子和细胞基础在很大程度上仍然难以捉摸,直到对先天性免疫缺陷的研究阐明了相应的遗传性和“特发性”感染的基础。浅表念珠菌病,也称为慢性黏膜皮肤念珠菌病 (CMC),可由 IL-17 免疫的先天性缺陷引起。侵袭性念珠菌病可由 CARD9 免疫的先天性缺陷引起。在本章中,我们回顾了这两组先天性免疫缺陷,并讨论了这些研究对破译其他情况下抗念珠菌免疫的关键机制的贡献。