Primary immunodeficiency disorder caused by phosphoinositide 3-kinase delta (PI3Kδ) deficiency.

08:00 EDT 21st July 2018 | BioPortfolio

Summary of "Primary immunodeficiency disorder caused by phosphoinositide 3-kinase delta (PI3Kδ) deficiency."

First publication on human PI3Kδ deficiency. Two patients carrying novel homozygous loss-of-function mutation in PIK3CD, resulting in PI3Kδ deficiency, developed a primary immunodeficiency disorder characterized by hypogammaglobulinemia and inflammatory bowel disease.


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This article was published in the following journal.

Name: The Journal of allergy and clinical immunology
ISSN: 1097-6825


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Medical and Biotech [MESH] Definitions

Phosphoinositide phosphatases that catalyze the dephosphorylation (hydrolysis) of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P(3)) to produce PtdIns(3,4)P(2), which negatively regulates the PI3K ( 3-PHOSPHOINOSITIDE-DEPENDENT PROTEIN KINASES) pathways. They contain an SH2 DOMAIN and STERILE ALPHA MOTIF and have important functions in regulating the immune response and other cellular processes in vertebrates.

A ubiquitously expressed protein kinase that is involved in a variety of cellular SIGNAL PATHWAYS. Its activity is regulated by a variety of signaling protein tyrosine kinase.

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A phosphoinositide phospholipase C subtype that is primarily regulated by its association with HETEROTRIMERIC G-PROTEINS. It is structurally related to PHOSPHOLIPASE C DELTA with the addition of C-terminal extension of 400 residues.

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