Familial candidiasis
Familial candidiasis is an inherited condition characterized by chronic or recurrent infections of the skin, nails, and mucous membranes caused by the fungus Candida.
Overview
Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically experience recurrent and persistent infections of the skin, nails, and the moist lining of body cavities (mucous membranes). This pattern of infection is known as chronic mucocutaneous candidiasis.
Symptoms
Most people with familial candidiasis experience yeast infections beginning in early childhood. Common symptoms include:
- Skin infections: Rashes with crusty, thickened patches; on the scalp, these can lead to hair loss (scarring alopecia).
- Nail infections: Thick, cracked, and discolored nails, often accompanied by redness and swelling of the surrounding skin.
- Thrush: Yeast infections in the mouth.
- Gastrointestinal issues: Bloating, constipation, or diarrhea.
- Vaginal infections: Frequent yeast infections in women.
- Diaper rash: Persistent skin infections in infants.
Depending on the specific genetic change, some individuals are at risk for systemic candidiasis, a life-threatening condition where the infection spreads through the bloodstream to organs such as the brain and the meninges.
Causes
Familial candidiasis is caused by mutations in genes that provide instructions for proteins involved in immune system function, specifically the IL-17 pathway. This pathway is responsible for generating cells called Th17 cells, which produce signaling molecules (cytokines) that fight foreign invaders and control Candida growth on mucous membranes.
Mutations in genes such as CARD9, IL17RC, and STAT1 interfere with this pathway, diminishing the body's immune response to Candida. While most associated gene mutations cause chronic mucocutaneous candidiasis, CARD9 mutations are also known to lead to systemic candidiasis in some individuals.
Inheritance
Familial candidiasis is inherited in different patterns depending on the gene involved:
- Autosomal dominant: One copy of the altered gene in each cell is sufficient to cause the disorder (e.g., STAT1).
- Autosomal recessive: Both copies of the gene in each cell have mutations (e.g., CARD9 or IL17RC). In these cases, parents typically do not show signs of the condition.
