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

Publication date: Available online 21 July 2018

Source: Journal of Allergy and Clinical Immunology

Author(s): Georgios Sogkas, Mykola Fedchenko, Akshay Dhingra, Alexandra Jablonka, Reinhold E. Schmidt, Faranaz Atschekzei

Short summary

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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