STAT1 gain-of-function and chronic demodicosis.
Pediatr Dermatol
; 37(1): 153-155, 2020 Jan.
Article
en En
| MEDLINE
| ID: mdl-31637766
ABSTRACT
Heterozygous STAT1 gain-of-function (GOF) mutations result in a combined form of immunodeficiency which is the most common genetic cause of chronic mucocutaneous candidiasis (CMC). We present a pedigree with a GOF mutation in STAT1, manifesting with chronic demodicosis in the form of a facial papulopustular eruption, blepharitis, and chalazion. So far, demodicosis has been described in only one family with STAT1-GOF mutation. We suggest that chronic demodicosis is an under-recognized feature of the immune dysregulation disorder caused by STAT1 gain-of-function mutations.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trombiculidae
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Candidiasis Mucocutánea Crónica
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Factor de Transcripción STAT1
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Mutación con Ganancia de Función
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Síndromes de Inmunodeficiencia
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Infestaciones por Ácaros
Límite:
Adolescent
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Adult
/
Animals
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Pediatr Dermatol
Año:
2020
Tipo del documento:
Article
País de afiliación:
Israel