Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

doi:10.1007/s10875-016-0281-6

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Article

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.

Journal of clinical immunology - 1 Jul 2016

Petrovski Slavé, Parrott Roberta E, Roberts Joseph L, Huang Hongxiang, Yang Jialong, Gorentla Balachandra, Mousallem Talal, Wang Endi, Armstrong Martin, McHale Duncan, MacIver Nancie J, Goldstein David B, Zhong Xiao-Ping, Buckley Rebecca H

Abstract excerpt

The purpose of this research was to use next generation sequencing to identify mutations in patients with primary immunodeficiency diseases whose pathogenic gene mutations had not been identified. Remarkably, four unrelated patients were found by next generation sequencing to have the same heterozygous mutation in an essential donor splice site of PIK3R1 (NM_181523.2:c.1425 + 1G > A) found in three prior reports....

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PMID: 27076228
DOI: 10.1007/s10875-016-0281-6
PMCID: PMC5690581

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PDK1

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