Chronic mucocutaneous candidiasis is a persistent or recurrent candida infection afugrund congenital T cell defects.
(See also Overview of immune deficiency disorders, and approach to the patient with an immunodeficiency disorder.)
Chronic mucocutaneous candidiasis is a persistent or recurrent candida infection afugrund congenital T cell defects. (See also Overview of immune deficiency disorders, and approach to the patient with an immunodeficiency disorder.) Chronic mucocutaneous candidiasis is a primary immunodeficiency disease, which includes a T-cell defect. Inheritance can be autosomal dominant: Includes a mutation in the signal transducer and activator of transcription-1 gene [STAT1]) Autosomal recessive: Closes a mutation in the autoimmune regulator gene with a (AIRE) In the recessive form (autoimmune Polyendokrinopathie- candidiasis-ectodermal dystrophy) develop normally autoimmune manifestations; they include endocrine disorders (eg. B. Hypoparathyroidism, adrenal insufficiency, hypogonadism, thyroid disease, diabetes), alopecia areata, pernicious anemia and hepatitis. Mutations can also occur in genes encoding different proteins-in particular involved in the innate immune response to fungi, the following: 22 [also called LYP, or lymphoid tyrosine phosphatase] PTPN22 (Protein tyrosine phosphatase, non-receptor type is involved in T cell receptor signaling) Dectin-1 (a natural pattern recognition receptor for fighting fungal infections is essential (for) card9 ‘caspase recruitment domain-containing protein 9 “, which is an adapter molecule that is important in the production of IL-17 and for the protection against fungal invasion) patients have a cutaneous Candida anergy, no proliferative response to the Candida antigen (but a normal proliferative response to mitogens), and an intact antibody response to Candida and other antigens. Candidiasis is recurrent or persistent, they usually begins during childhood, but sometimes not until early adulthood. The life is not affected. Some patients also have a mangehafte humoral immunity (sometimes called antibody deficiency), which is characterized by abnormal antibody responses to polysaccharide antigens in spite of normal immunoglobulin levels. Symptoms and complaints thrush is common, as well as infections of the scalp, skin, nails, gastrointestinal tract and vaginal mucosa. The severity varies. Nails can be thickened, cracked and discolored, with edema and redness of the surrounding periungual tissue, similar clubbing. Skin lesions are crusted, verpustelt, red and hyperkeratotic. Scalp lesions can lead to alopecia. In infants often shows a refractory thrush, Candida diaper rash, or both. Diagnosis Clinical Investigation Candida lesions be confirmed by standard tests (eg. As potassium hydroxide wet mount of scrapings). The diagnosis of mucocutaneous candidiasis is based on whether recurrent Candida skin or mucosal lesions are seen when no other known causes of Candida infection (eg., Diabetes, antibiotic use) are present. Patients are tested for endocrine disorders based on clinical suspicion. If one AIRE mutation is discovered, siblings and children of the patient screening can be offered. Therapy antifungal treatment of endocrine and autoimmune manifestations In general, the infections with topical antifungal agents can be controlled. If the patients respond poorly to topical antifungal drugs, the long-term treatment with a systemic antimycotic (z. B. amphotericin B, fluconazole, ketoconazole) may be necessary. Treatment with immunoglobulins (IVIG) should be considered when patients have antibody deficiency syndromes. Autoimmune (including endocrine) manifestations be treated aggressively. A hematopoietic stem cell transplantation has been successful in two cases, and could be considered as treatment last choice for severe cases considered. Key points The inheritance of chronic mucocutaneous candidiasis occurs autosomal dominant or recessive. Patients with recessive form may have autoimmune manifestations (including endocrine). The diagnosis of the disorder occurs on the confirmation of mucocutaneous candidiasis and the exclusion of other causes. Candidiasis is with antimycotics (using a systemic medicament, if necessary), and it will be treated the autoimmune manifestations.