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Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K
Whole exome sequencing was used to determine the causative gene in patients with B cell defects of unknown etiology. A homozygous premature stop codon in exon 6 of PIK3R1 was identified in a young woman with colitis and absent B cells. The mutation results in the absence of p85α but normal expressio...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Rockefeller University Press
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3302225/ https://www.ncbi.nlm.nih.gov/pubmed/22351933 http://dx.doi.org/10.1084/jem.20112533 |