AstuteClinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 ofICOSCauses a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

ICOS encodes the Inducible T-cell Co-Stimulator (ICOS). Deficiency of this receptor in humans causes a common variable immunodeficiency (CVID) characterised by an absence of class-switched memory B cells and hypogammaglobulinemia. Three pathogenic mutations in ICOS have been described to date in a t...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Clin Immunol
Main Authors: Robertson, Nic, Engelhardt, Karin R., Morgan, Neil V., Barge, Dawn, Cant, Andrew J., Hughes, Stephen M., Abinun, Mario, Xu, Yaobo, Koref, Mauro Santibanez, Arkwright, Peter D., Hambleton, Sophie
Formato: Artigo
Idioma:Inglês
Publicado em: Springer US 2015
Assuntos:
Astute Clinician Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4628077/
https://ncbi.nlm.nih.gov/pubmed/26399252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-015-0193-x
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados