Primary immunodeficiency disorder caused by phosphoinositide 3-kinase delta (PI3K δ) deficiency

First publication on human PI3K δ 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.

Source: Journal of Allergy and Clinical Immunology - July 21, 2018 Category: Allergy & Immunology Authors: Georgios Sogkas, Mykola Fedchenko, Akshay Dhingra, Alexandra Jablonka, Reinhold E. Schmidt, Faranaz Atschekzei Source Type: research