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A human immunodeficiency caused by mutations in the PIK3R1 gene
Recently, patient mutations that activate PI3K signaling have been linked to a primary antibody deficiency. Here, we used whole-exome sequencing and characterized the molecular defects in 4 patients from 3 unrelated families diagnosed with hypogammaglobulinemia and recurrent infections. We identifie...
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| Glavni autori: | , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
American Society for Clinical Investigation
2014
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4153704/ https://ncbi.nlm.nih.gov/pubmed/25133428 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI75746 |
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