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Items: 3

Select item 56905811.

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

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

J Clin Immunol. Author manuscript; available in PMC 2017 Nov 16.

Published in final edited form as: J Clin Immunol. 2016 Jul; 36(5): 462–471. Published online 2016 Apr 13. doi: 10.1007/s10875-016-0281-6

PMCID:: PMC5690581

Abstract Article PDF–671K

Select item 42672412.

Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K

Carrie L. Lucas, Yu Zhang, Anthony Venida, Ying Wang, Jason Hughes, Joshua McElwee, Morgan Butrick, Helen Matthews, Susan Price, Matthew Biancalana, Xiaochuan Wang, Michael Richards, Tamara Pozos, Isil Barlan, Ahmet Ozen, V. Koneti Rao, Helen C. Su, Michael J. Lenardo

J Exp Med. 2014 Dec 15; 211(13): 2537–2547. doi: 10.1084/jem.20141759

PMCID:: PMC4267241

Abstract Article PDF–1.9M

Select item 41537043.

A human immunodeficiency caused by mutations in the PIK3R1 gene

Marie-Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suarez, Christine Bole-Feysot, Patrick Nitschke, Marina Cavazzana, Capucine Picard, Anne Durandy, Alain Fischer, Sven Kracker

J Clin Invest. 2014 Sep 2; 124(9): 3923–3928. Published online 2014 Aug 18. doi: 10.1172/JCI75746