Αρχειοθήκη ιστολογίου

Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174

Σάββατο 21 Ιουλίου 2018

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.



https://ift.tt/2uSTHUy

Δεν υπάρχουν σχόλια:

Δημοσίευση σχολίου