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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2015
Materias:
Astute Clinician Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628077/
https://www.ncbi.nlm.nih.gov/pubmed/26399252
http://dx.doi.org/10.1007/s10875-015-0193-x

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