Candidiasis in patients with APS-1: low IL-17, high IFN-γ, or both?

doi:10.1016/j.coi.2021.08.001

Review

. 2021 Oct:72:318-323.

doi: 10.1016/j.coi.2021.08.001. Epub 2021 Aug 26.

Candidiasis in patients with APS-1: low IL-17, high IFN-γ, or both?

Quentin Philippot¹, Jean-Laurent Casanova², Anne Puel³

Affiliations

¹ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University of Paris, Imagine Institute, Paris, France.
² Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University of Paris, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States; Howard Hughes Medical Institute, New York, NY, United States.
³ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University of Paris, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States. Electronic address: anne.puel@inserm.fr.

PMID: 34455138
PMCID: PMC9359210
DOI: 10.1016/j.coi.2021.08.001

Review

Candidiasis in patients with APS-1: low IL-17, high IFN-γ, or both?

Quentin Philippot et al. Curr Opin Immunol. 2021 Oct.

. 2021 Oct:72:318-323.

doi: 10.1016/j.coi.2021.08.001. Epub 2021 Aug 26.

Authors

Quentin Philippot¹, Jean-Laurent Casanova², Anne Puel³

Affiliations

¹ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University of Paris, Imagine Institute, Paris, France.
² Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University of Paris, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States; Howard Hughes Medical Institute, New York, NY, United States.
³ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University of Paris, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States. Electronic address: anne.puel@inserm.fr.

PMID: 34455138
PMCID: PMC9359210
DOI: 10.1016/j.coi.2021.08.001

Abstract

Chronic mucocutaneous candidiasis (CMC) is one of the earliest and most frequent clinical manifestations of autosomal recessive autoimmune polyendocrine syndrome type 1 (APS-1), a monogenic inborn error of immunity caused by deleterious variants of the autoimmune regulator (AIRE) gene. APS-1 patients suffer from various autoimmune diseases, due to the defective thymic deletion of autoreactive T cells, and the development of a large range of autoantibodies (auto-Abs) against various tissue antigens, and some cytokines. The mechanisms underlying CMC remained elusive for many years, until the description in 2010 of high serum titers of neutralizing auto-Abs against IL-17A, IL-17F, and/or IL-22, which are present in almost all APS-1 patients. Excessively high mucosal concentrations of IFN-γ were recently proposed as an alternative mechanism for CMC in APS-1.

PubMed Disclaimer

Cited by

Exploring Chronic Hypocalcemia: Insights into Autoimmune Polyglandular Syndrome Type 1-A Case Study and Literature Review.
Brad GF, Nicoară DM, Scutca AC, Bugi MA, Asproniu R, Olariu LG, Jugănaru I, Cristun LI, Mărginean O. Brad GF, et al. J Clin Med. 2024 Apr 18;13(8):2368. doi: 10.3390/jcm13082368. J Clin Med. 2024. PMID: 38673639 Free PMC article. Review.
Cutaneous Manifestations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A Comprehensive Review.
Sandru F, Petca RC, Dumitrascu MC, Petca A, Ionescu Miron AI, Baicoianu-Nitescu LC. Sandru F, et al. Biomedicines. 2024 Jan 9;12(1):132. doi: 10.3390/biomedicines12010132. Biomedicines. 2024. PMID: 38255237 Free PMC article. Review.
Mucosal Immunity to Gut Fungi in Health and Inflammatory Bowel Disease.
Carlson SL, Mathew L, Savage M, Kok K, Lindsay JO, Munro CA, McCarthy NE. Carlson SL, et al. J Fungi (Basel). 2023 Nov 14;9(11):1105. doi: 10.3390/jof9111105. J Fungi (Basel). 2023. PMID: 37998910 Free PMC article. Review.
Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.
Vinh DC. Vinh DC. Pathogens. 2023 Mar 14;12(3):456. doi: 10.3390/pathogens12030456. Pathogens. 2023. PMID: 36986378 Free PMC article. Review.
Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases.
Olbrich P, Vinh DC. Olbrich P, et al. J Fungi (Basel). 2023 Jan 22;9(2):149. doi: 10.3390/jof9020149. J Fungi (Basel). 2023. PMID: 36836264 Free PMC article. Review.

See all "Cited by" articles

References

1. Puel A, Cypowyj S, Maródi L, Abel L, Picard C, Casanova J-L: Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol 2012, 12:616–622. - PMC - PubMed
1. Puel A: Human inborn errors of immunity underlying superficial or invasive candidiasis. Hum Genet 2020, 139:1011–1022. - PMC - PubMed
1. Asano T, Khourieh J, Zhang P, Rapaport F, Spaan AN, Li J, Lei W-T, Pelham SJ, Hum D, Chrabieh M, et al.: Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance. Journal of Experimental Medicine 2021, 218. - PMC - PubMed
2. In this report, the authors demonstrate that heterozygous STAT3 variants, which are found in patients with autosomal dominant hyper-IgE syndrome (HIES), whether in- or out-of-frame, underlie AD-HIES through negative dominance rather than haploinsufficiency.
1. Corvilain E, Casanova J-L, Puel A: Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults. J Clin Immunol 2018, 38:656–693. - PMC - PubMed
1. Bustamante J: Mendelian susceptibility to mycobacterial disease: recent discoveries. Hum Genet 2020, 139:993–1000. - PMC - PubMed

Publication types

Actions
Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions
Actions

Supplementary concepts

Actions

Grants and funding

LinkOut - more resources

Full Text Sources
Medical
- MedlinePlus Health Information
Miscellaneous
- NCI CPTAC Assay Portal

[1] Puel A, Cypowyj S, Maródi L, Abel L, Picard C, Casanova J-L: Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol 2012, 12:616–622. - PMC - PubMed

[2] Puel A, Cypowyj S, Maródi L, Abel L, Picard C, Casanova J-L: Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol 2012, 12:616–622. - PMC - PubMed

[3] Puel A: Human inborn errors of immunity underlying superficial or invasive candidiasis. Hum Genet 2020, 139:1011–1022. - PMC - PubMed

[4] Puel A: Human inborn errors of immunity underlying superficial or invasive candidiasis. Hum Genet 2020, 139:1011–1022. - PMC - PubMed

[5] Asano T, Khourieh J, Zhang P, Rapaport F, Spaan AN, Li J, Lei W-T, Pelham SJ, Hum D, Chrabieh M, et al.: Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance. Journal of Experimental Medicine 2021, 218. - PMC - PubMed

In this report, the authors demonstrate that heterozygous STAT3 variants, which are found in patients with autosomal dominant hyper-IgE syndrome (HIES), whether in- or out-of-frame, underlie AD-HIES through negative dominance rather than haploinsufficiency.

[6] Asano T, Khourieh J, Zhang P, Rapaport F, Spaan AN, Li J, Lei W-T, Pelham SJ, Hum D, Chrabieh M, et al.: Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance. Journal of Experimental Medicine 2021, 218. - PMC - PubMed

[7] In this report, the authors demonstrate that heterozygous STAT3 variants, which are found in patients with autosomal dominant hyper-IgE syndrome (HIES), whether in- or out-of-frame, underlie AD-HIES through negative dominance rather than haploinsufficiency.

[8] Corvilain E, Casanova J-L, Puel A: Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults. J Clin Immunol 2018, 38:656–693. - PMC - PubMed

[9] Corvilain E, Casanova J-L, Puel A: Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults. J Clin Immunol 2018, 38:656–693. - PMC - PubMed

[10] Bustamante J: Mendelian susceptibility to mycobacterial disease: recent discoveries. Hum Genet 2020, 139:993–1000. - PMC - PubMed

[11] Bustamante J: Mendelian susceptibility to mycobacterial disease: recent discoveries. Hum Genet 2020, 139:993–1000. - PMC - PubMed

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Candidiasis in patients with APS-1: low IL-17, high IFN-γ, or both?

Affiliations

Candidiasis in patients with APS-1: low IL-17, high IFN-γ, or both?

Authors

Affiliations

Abstract

Similar articles

Cited by

References

Publication types

MeSH terms

Substances

Supplementary concepts

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Miscellaneous

Abstract

Similar articles

Cited by

References

Publication types

MeSH terms

Substances

Supplementary concepts

Related information

Grants and funding

LinkOut - more resources

Full Text Sources

Medical

Miscellaneous