Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency.
J Clin Immunol
; 35(4): 356-60, 2015 May.
Article
em En
| MEDLINE
| ID: mdl-25893637
ABSTRACT
B-cell linker (BLNK) protein is a non-redundant adaptor molecule in the signaling pathway activated by (pre) B-cell antigen receptor signals. We present two siblings with a homozygous deleterious frameshift mutation in BLNK, resulting in a block of B cell development in the bone marrow at the preB1 to preB2 stage, absence of circulating B cells and agammaglobulinemia. This is the first description of an enteroviral infection associated arthritis and dermatitis in a patient with BLNK deficiency.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Agamaglobulinemia
/
Proteínas Adaptadoras de Transdução de Sinal
/
Infecções por Enterovirus
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
J Clin Immunol
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Israel