# Homozygosity for the Common IL23R R381Q Variant Associates with Increased Susceptibility to Chronic Mucocutaneous Candidiasis

## TL;DR

This study shows that carrying two copies of a common IL23R gene variant increases the risk of chronic fungal infections due to weakened immune responses.

## Contribution

The study identifies a specific genetic variant (p.R381Q IL-23R) associated with impaired immunity and susceptibility to chronic mucocutaneous candidiasis.

## Key findings

- Homozygosity for the IL23R R381Q variant is linked to chronic mucocutaneous candidiasis.
- The variant disrupts IL-23-mediated IL-17 immunity, impairing antifungal defenses.

## Abstract

Chronic mucocutaneous candidiasis can be caused by an Inborn Error of Immunity, especially those affecting TH‐17 / IL‐17 responses. Through in‐depth immunophenotyping and functional assays, we reveal the association between homozygous carriage of the common p.R381Q IL‐23R genetic variant and increased candidiasis susceptibility, relying on disrupted IL‐23‐mediated IL‐17 immunity.