Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations.
Clin Exp Immunol
; 190(1): 1-7, 2017 10.
Article
em En
| MEDLINE
| ID: mdl-28600865
ABSTRACT
Immune deficiency disorders are a heterogeneous group of diseases of variable genetic aetiology. While the hallmark of immunodeficiency is susceptibility to infection, it is increasingly clear that autoimmunity is prevalent, suggestive of a more general immune dysregulation in some cases. With the increasing use of genetic technologies, the underlying causes of immune dysregulation are beginning to emerge. Here we provide a review of the heterozygous mutations found in the immune checkpoint protein CTLA-4, identified in cases of common variable immunodeficiency disorders (CVID) with accompanying autoimmunity. Study of these mutations provides insights into the biology of CTLA-4 as well as suggesting approaches for rational treatment of these patients.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Linfócitos T
/
Imunodeficiência de Variável Comum
/
Antígeno CTLA-4
/
Imunoterapia
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Clin Exp Immunol
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Reino Unido