Inflammatory skin and bowel disease linked to ADAM17 deletion.
N Engl J Med
; 365(16): 1502-8, 2011 Oct 20.
Article
en En
| MEDLINE
| ID: mdl-22010916
ABSTRACT
We performed genetic and immunohistochemical studies in a sister and brother with autosomal recessive neonatal inflammatory skin and bowel lesions. The girl died suddenly at 12 years of age from parvovirus B19-associated myocarditis; her brother had mild cardiomyopathy. We identified a loss-of-function mutation in ADAM17, which encodes a disintegrin and metalloproteinase 17 (also called tumor necrosis factor α [TNF-α]-converting enzyme, or TACE), as the probable cause of this syndrome. Peripheral-blood mononuclear cells (PBMCs) obtained from the brother at 17 years of age showed high levels of lipopolysaccharide-induced production of interleukin-1ß and interleukin-6 but impaired release of TNF-α. Despite repeated skin infections, this young man has led a relatively normal life. (Funded by Barts and the London Charity and the European Commission Seventh Framework Programme.).
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de la Piel
/
Enfermedades Inflamatorias del Intestino
/
Eliminación de Secuencia
/
Proteínas ADAM
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
N Engl J Med
Año:
2011
Tipo del documento:
Article
País de afiliación:
Reino Unido