candidiasis, familial, 9

Candidiasis, familial, 9 is a condition characterized by chronic mucocutaneous candidiasis caused by mutations in the IL17RC gene. It primarily affects the skin and mucous membranes, leading to recurrent and persistent fungal infections. The condition follows an autosomal recessive pattern of inheritance, meaning that individuals must inherit two mutated copies of the gene to manifest symptoms. Although precise prevalence data is not available, the disorder has been observed in familial clusters.

The hallmark feature of candidiasis, familial, 9 is chronic mucocutaneous candidiasis, which is present in all affected individuals. In addition, some individuals experience Candida esophagitis, onychomycosis, and recurrent aphthous stomatitis, with these features observed in a large subset of patients. Not all individuals experience every feature, and the severity and combination of symptoms can vary considerably.

This condition is caused by pathogenic variants in the IL17RC gene, which plays a crucial role in the immune response against fungal infections. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to manifest. Family members of affected individuals may be carriers of a single mutated copy, and genetic counseling is recommended to discuss recurrence risks and implications for family planning.

Currently, management of candidiasis, familial, 9 focuses on supportive care and symptomatic treatment. Since there are no FDA-approved treatments or established foundational therapies for this condition, care is typically personalized and delivered through a multidisciplinary team. Patients are advised to work closely with their healthcare team to manage symptoms, and genetic counseling is recommended to provide further guidance for families.

The clinical course of candidiasis, familial, 9 can vary widely between individuals, with outcomes depending on the severity of symptoms and access to specialized care. With current standards of care, many individuals maintain a good quality of life and manage infections effectively, although the risk for complications exists. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists experienced in managing chronic infections and to seek genetic counseling for further guidance.