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...

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Veröffentlicht in:	The Journal of experimental medicine 2012-03, Vol.209 (3), p.463-470
Hauptverfasser:	Conley, Mary Ellen, Dobbs, A Kerry, Quintana, Anita M, Bosompem, Amma, Wang, Yong-Dong, Coustan-Smith, Elaine, Smith, Amber M, Perez, Elena E, Murray, Peter J
Format:	Artikel
Sprache:	eng
Schlagworte:	Agammaglobulinemia - enzymology Agammaglobulinemia - genetics Agammaglobulinemia - immunology Amino Acid Sequence Animals B-Lymphocytes - enzymology B-Lymphocytes - immunology B-Lymphocytes - pathology Base Sequence Brief Definitive Report Case-Control Studies Cell Differentiation - genetics Class Ia Phosphatidylinositol 3-Kinase - deficiency Class Ia Phosphatidylinositol 3-Kinase - genetics Codon, Nonsense Cytokines - biosynthesis Dendritic Cells - immunology DNA Mutational Analysis Exons Female Homozygote Humans Male Mice Mice, Knockout Pedigree Young Adult
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Zusammenfassung:	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 expression of the p50α and p55α regulatory subunits of PI3K. Bone marrow aspirates from the patient showed
ISSN:	0022-1007 1540-9538
DOI:	10.1084/jem.20112533