Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant

This case demonstrates the essential contribution of the p110δ catalytic 21 domain in adaptive immunity function in a patient with expression of a kinase-dead p110δ mutant.

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Bibliographic Details
Published in:	Journal of allergy and clinical immunology Vol. 143; no. 2; pp. 797 - 799.e2
Main Authors:	Cohen, Sarah Beaussant, Bainter, Wayne, Johnson, Jared L., Lin, Ting-Yu, Wong, Jenny C.Y., Wallace, Jacqueline G., Jones, Jennifer, Qureshi, Sonia, Mir, Fatima, Qamar, Farah, Cantley, Lewis C., Geha, Raif S., Chou, Janet
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-02-2019
Subjects:	Adaptive Immunity Antibody Formation Cells, Cultured Child Class I Phosphatidylinositol 3-Kinases - genetics Consanguinity Fatal Outcome Humans Male Mutation - genetics Pakistan Pedigree Primary Immunodeficiency Diseases - genetics Sepsis - genetics Signal Transduction T-Lymphocytes - metabolism Whole Exome Sequencing Pakistan
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Description
Summary:	This case demonstrates the essential contribution of the p110δ catalytic 21 domain in adaptive immunity function in a patient with expression of a kinase-dead p110δ mutant.
ISSN:	0091-6749 1097-6825
DOI:	10.1016/j.jaci.2018.10.005