Candidiasis familial, Type 2 B37.-

Rare, genetically determined, primary immunodeficiency syndrome (see also overview: under primary immunodeficiencies/disorders of intrinsic and natural immunity), which is characterized by an increased susceptibility to fungal infections and is typically characterized as recurrent, chronic mucocutaneous candidiasis (oral mucosa, intestine) or also as systemic candidiasis but also as therapy-resistant deep dermatomycosis (dermatophytosis). Affected are mucous membranes close to the skin, intestine, skin, hair, nails, but also internal organs such as lymph nodes and brain due to systemic spread.

Drewniak et al (2013) studied a 13-year-old Asian girl who was adopted as an infant and developed fever, headache, behavioral changes, and seizures at age 7. She was diagnosed with Candida dubliniensis meningoencephalitis. MRI showed deep infarction of the left striatum, meningeal enhancement, and mild ventricular dilation. After six months of antifungal treatment, clinical relapse occurred after its discontinuation. C. dubliniensis was detected in cerebrospinal fluid cultures. Clinical symptoms and eosinophilic pleocytosis in CSF disappeared within a few weeks after resumption of combination antifungal therapy. Western blot analysis of the patient's neutrophil granulocytes revealed the absence of CARD9 protein. Activated patient T-cell cultures showed marked induction of various cytokines but reduced levels of IL17.

Lanternier et al (2013) described 17 patients from 8 unrelated families of Moroccan, Tunisian, and Algerian descent with deep nodular dermatophyte infections, including ulcerative fistulization. In all patients, symptoms first appeared in childhood or early adulthood. 4 patients had lymphadenitis caused by dermatophyte infection. 15 patients had severe onychomycosis, Localized infiltration of bone occurred in 2 patients. 4 patients with clinically active deep dermatophytosis died at the ages of 28, 29, 37, and 39 years. Evidence of a homozygous nonsense mutation (Q289X; 607212,0004) was present in 7 families; patients in the eighth family were homozygous for a CARD9 missense mutation (R101C; 607212,0005).

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