Familial candidiasis
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Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically have infections of the skin, the nails, and the moist lining of body cavities (mucous membranes). These infections are recurrent and persistent, which means they come back repeatedly and can last a long time. This pattern of infection is called chronic mucocutaneous candidiasis.
Descrição
Familial candidiasis is an inherited tendency to develop infections caused by a type of fungus called Candida. Affected individuals typically have infections of the skin, the nails, and the moist lining of body cavities (mucous membranes). These infections are recurrent and persistent, which means they come back repeatedly and can last a long time. This pattern of infection is called chronic mucocutaneous candidiasis.
Candida is commonly present on the skin and on the mucous membranes, and in most people usually causes no health problems. However, certain medications (such as antibiotics and corticosteroids) and other factors can lead to occasional overgrowth of Candida (candidiasis) in the mouth (where it is known as thrush) or in the vagina. These episodes, commonly called yeast infections, usually last only a short time before being cleared by a healthy immune system.
Most people with familial candidiasis have chronic or recurrent yeast infections that begin in early childhood. Skin infections lead to a rash with crusty, thickened patches; when these patches occur on the scalp, they can cause loss of hair in the affected area (scarring alopecia). Candidiasis of the nails can result in thick, cracked, and discolored nails and swelling and redness of the surrounding skin. Thrush and gastrointestinal symptoms such as bloating, constipation, or diarrhea are common in affected individuals. Women with familial candidiasis can develop frequent vaginal yeast infections, and infants can have yeast infections on the skin that cause persistent diaper rash.
Depending on the genetic change involved in this condition, some affected individuals are at risk for developing systemic candidiasis, a more severe condition in which the infection spreads through the bloodstream to various organs including the brain and the meninges, which are the membranes covering the brain and spinal cord. Systemic candidiasis can be life-threatening.
Chronic or recurrent yeast infections can occur in people without familial candidiasis. Some individuals experience recurrent candidiasis as part of a general susceptibility to infections because their immune systems are impaired by a disease such as acquired immune deficiency syndrome (AIDS) or severe combined immunodeficiency (SCID), medications, or other factors. Other individuals have syndromes such as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or autosomal dominant hyper-IgE syndrome (AD-HIES) that include a tendency to develop candidiasis along with other signs and symptoms affecting various organs and systems of the body.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal dominant; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Familial chronic mucocutaneous candidiasis
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Leitura adicional e referências
- Familial candidiasis; MedlinePlus, National Library of Medicine.
- Delsing CE, Bleeker-Rovers CP, Kullberg BJ, Netea MG. Treatment of candidiasis: insights from host genetics. Expert Rev Anti Infect Ther. 2012 Aug;10(8):947-56. doi: 10.1586/eri.12.79.
- Engelhardt KR, Grimbacher B. Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects. J Allergy Clin Immunol. 2012 Feb;129(2):294-305; quiz 306-7. doi: 10.1016/j.jaci.2011.12.966.
- Filler SG. Insights from human studies into the host defense against candidiasis. Cytokine. 2012 Apr;58(1):129-32. doi: 10.1016/j.cyto.2011.09.018. Epub 2011 Oct 19.
- Glocker E, Grimbacher B. Chronic mucocutaneous candidiasis and congenital susceptibility to Candida. Curr Opin Allergy Clin Immunol. 2010 Dec;10(6):542-50. doi: 10.1097/ACI.0b013e32833fd74f.
- Hanna S, Etzioni A. New host defense mechanisms against Candida species clarify the basis of clinical phenotypes. J Allergy Clin Immunol. 2011 Jun;127(6):1433-7. doi: 10.1016/j.jaci.2011.03.026. Epub 2011 Apr 17.
- Huppler AR, Bishu S, Gaffen SL. Mucocutaneous candidiasis: the IL-17 pathway and implications for targeted immunotherapy. Arthritis Res Ther. 2012 Jul 23;14(4):217. doi: 10.1186/ar3893.
- Plantinga TS, Johnson MD, Scott WK, Joosten LA, van der Meer JW, Perfect JR, Kullberg BJ, Netea MG. Human genetic susceptibility to Candida infections. Med Mycol. 2012 Nov;50(8):785-94. doi: 10.3109/13693786.2012.690902. Epub 2012 Jun 4.
- Puel A, Cypowyj S, Marodi L, Abel L, Picard C, Casanova JL. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr Opin Allergy Clin Immunol. 2012 Dec;12(6):616-22. doi: 10.1097/ACI.0b013e328358cc0b.
- Smeekens SP, van de Veerdonk FL, Kullberg BJ, Netea MG. Genetic susceptibility to Candida infections. EMBO Mol Med. 2013 Jun;5(6):805-13. doi: 10.1002/emmm.201201678. Epub 2013 Apr 30.
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