Main human inborn errors of immunity leading to fungal infections.
Chronic mucocutaneous candidiasis
Fungal infections
Inborn errors of immunity
Interleukin-17 immunity
Primary immunodeficiencies
Journal
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
ISSN: 1469-0691
Titre abrégé: Clin Microbiol Infect
Pays: England
ID NLM: 9516420
Informations de publication
Date de publication:
Nov 2022
Nov 2022
Historique:
received:
03
02
2022
revised:
28
06
2022
accepted:
29
06
2022
pubmed:
22
7
2022
medline:
27
10
2022
entrez:
21
7
2022
Statut:
ppublish
Résumé
The host's molecular and genetic features are essential in providing susceptibility to a broad spectrum of fungal infections; most of these do not cause disease in healthy individuals because of mutual benefits with opportunistic fungi besides the host's capacity to control the infections. In contrast, patients with primary immunodeficiency can develop mild superficial to life-threatening invasive infections. In the last years, thanks to next-generation sequencing, several inborn-error variants have been discovered in genes encoding protein acting against fungal infections, contributing to better defining the role of innate and adaptive immunity cooperation during infection resolution. Candida fungal infection that sometimes strikes healthy subjects is responsible for the chronic mucocutaneous candidiasis that is one of the principal clinical manifestations occurring in several rare primary immunodeficiencies associated with an inborn error of interleukin-17 (IL-17) immunity. This review aimed to provide an overview of chronic mucocutaneous candidiasis-derived genetic defects, including IL17 deficiencies (IL17A, IL17F, IL17RA, IL17RC), STAT1 gain-of-function deficiency, STAT3 hyper-IgE syndrome, and CARD9 deficiency. We carried out detailed research work to identify interesting articles, commentaries, and reviews in the PubMed literature to ensure a correct and updated narrative review. We propose an in-depth description and an update of genetic and cellular mechanisms underlying fungal infections, focusing on the IL17-mediated response, a report of clinical manifestations, and a description of therapeutic options. This narrative review will help clinician to identify the correct management of patients based on molecular and cellular findings underlying pathogenic mechanisms of different inborn errors of immunity. Moreover, enabling clinicians to achieve the genetic diagnosis will be useful to offer genetic counselling intra- and inter-family and to ensure a personalised treatment of patients.
Sections du résumé
BACKGROUND
BACKGROUND
The host's molecular and genetic features are essential in providing susceptibility to a broad spectrum of fungal infections; most of these do not cause disease in healthy individuals because of mutual benefits with opportunistic fungi besides the host's capacity to control the infections. In contrast, patients with primary immunodeficiency can develop mild superficial to life-threatening invasive infections. In the last years, thanks to next-generation sequencing, several inborn-error variants have been discovered in genes encoding protein acting against fungal infections, contributing to better defining the role of innate and adaptive immunity cooperation during infection resolution. Candida fungal infection that sometimes strikes healthy subjects is responsible for the chronic mucocutaneous candidiasis that is one of the principal clinical manifestations occurring in several rare primary immunodeficiencies associated with an inborn error of interleukin-17 (IL-17) immunity.
OBJECTIVE
OBJECTIVE
This review aimed to provide an overview of chronic mucocutaneous candidiasis-derived genetic defects, including IL17 deficiencies (IL17A, IL17F, IL17RA, IL17RC), STAT1 gain-of-function deficiency, STAT3 hyper-IgE syndrome, and CARD9 deficiency.
SOURCES
METHODS
We carried out detailed research work to identify interesting articles, commentaries, and reviews in the PubMed literature to ensure a correct and updated narrative review.
CONTENT
BACKGROUND
We propose an in-depth description and an update of genetic and cellular mechanisms underlying fungal infections, focusing on the IL17-mediated response, a report of clinical manifestations, and a description of therapeutic options.
IMPLICATIONS
CONCLUSIONS
This narrative review will help clinician to identify the correct management of patients based on molecular and cellular findings underlying pathogenic mechanisms of different inborn errors of immunity. Moreover, enabling clinicians to achieve the genetic diagnosis will be useful to offer genetic counselling intra- and inter-family and to ensure a personalised treatment of patients.
Identifiants
pubmed: 35863627
pii: S1198-743X(22)00346-9
doi: 10.1016/j.cmi.2022.06.031
pii:
doi:
Substances chimiques
Interleukin-17
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1435-1440Informations de copyright
Copyright © 2022. Published by Elsevier Ltd.