Chronic mucocutaneous candidiasis is an immune disorder of T cells.[4] It is characterized by chronic infections with Candida that are limited to mucosal surfaces, skin, and nails.[5]: 310 It can also be associated with other types of infections, such as human papilloma virus. An association with chromosome 2 has been identified.[medical citation needed]
Chronic mucocutaneous candidiasis | |
---|---|
Other names | CMC[1] |
Specialty | Infectious diseases, dermatology |
Symptoms | Skin ulcer[2] |
Types | CANDF1,2,3,4,5,6,7,8 and 9j |
Diagnostic method | Thyroid function test, Liver function test[3][4] |
Treatment | Systemic antifungal therapy[4] |
Type | OMIMα | Gene | Locus |
---|---|---|---|
CANDF1 | 114580 | - | 2p |
CANDF2 | 212050 | CARD9 | 9q34.3 |
CANDF3 | 607644 | - | 11 |
CANDF4 | 613108 | CLEC7A | 12p13.2-p12.3 |
CANDF5 | 613953 | IL17RA | 22q11 |
CANDF6 | 613956 | IL17F | 6p12 |
CANDF7 | 614162 | STAT1 | 2q32 |
CANDF8 | 615527 | TRAF3IP2 | 6q21 |
CANDF9 | 616445 | IL17RC | 3q25 |
The signs and symptoms of this condition are thickened skin, skin ulcer, dyspareunia, endocardium abnormality, vision problems, hepatitis, seizures, bloody urine, and meningitis.[2]
There are a number of disorders associated with chronic mucocutaneous candidiasis including endocrine dysfunctions, vitiligo, malabsorption syndromes, neoplasms, and others. In most patients, chronic mucocutaneous candidiasis is correlated to abnormalities in cell-mediated immunity (T-lymphocyte mediated response)[citation needed]. The T-lymphocytes fail to produce the necessary cytokines that are required for immunity against Candida. Current effective treatments include anti-fungal drugs and, for long-term remissions, restoration of cellular immunity.[6]
Patients with autosomal-dominant mucocutaneous candidiasis may be at risk for epidermoid esophageal cancer due to the nitrosamine compounds produced by chronic candida infections.[citation needed][7]
Chronic mucocutaneous candidiasis can be inherited either autosomal dominant or autosomal recessive.[1] There are 9 types of this condition with the first CANDF1 being located at 2p22.3-p21 (cytogenetically).[8]
The mechanism the human immune system has is normally to fight an infection (like Candida). Initially, Th17 cells are made by the immune system, which in turn produces interleukin-17 (IL-17). This induces inflammation and white blood cells confront infection.[9]
Chronic mucocutaneous candidiasis mutations affect IL-17 by inhibiting its pathway. This in turn affects the human immune system's ability to fight infection, in total there are 9 possible types of this condition.[9][10]
Chronic mucocutaneous candidiasis can be diagnosed in an affected individual via the following methods/tests:[3][4]
Management for an individual with chronic mucocutaneous candidiasis consists of the following (relapse occurs once treatment is ceased, in many cases):[4][11]
^ Indicates 9 references to specific, numbered pages in the Online Mendelian Inheritance in Man database.
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