Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility

Autosomal dominant gain of function mutations in the gene encoding PI3K p110δ were recently associated with a novel combined immune deficiency characterized by recurrent sinopulmonary infections, CD4 lymphopenia, reduced class-switched memory B cells, lymphadenopathy, CMV and/or EBV viremia and EBV-...

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Main Authors: Crank, M. C., Grossman, J. K., Moir, S., Pittaluga, S., Buckner, C. M., Kardava, L., Agharahimi, A., Meuwissen, H., Stoddard, J., Niemela, J., Kuehn, H., Rosenzweig, S. D.
Format: Artigo
Sprog:Inglês
Udgivet: 2014
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4159085/
https://ncbi.nlm.nih.gov/pubmed/24610295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-014-0012-9
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