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Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM

Background: X linked hyper-IgM (XHIM) is a primary immunodeficiency caused by mutations in the tumour necrosis factor superfamily 5 gene, TNFSF5, also known as the CD40 ligand (CD40L) gene. Patients often present with recurrent infections, and confirmation of a diagnosis of XHIM enables appropriate...

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Detalhes bibliográficos
Main Authors: Gilmour, K C, Walshe, D, Heath, S, Monaghan, G, Loughlin, S, Lester, T, Norbury, G, Cale, C M
Formato: Artigo
Idioma:Inglês
Publicado em: British Medical Journal Publishing Group 2003
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1187335/
https://ncbi.nlm.nih.gov/pubmed/14514918
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