Combined immunodeficiency caused by a novel homozygous NFKB1 mutation

We describe a homozygous mutation in NFKB1 (G960R) that interrupts T and B cell maturation and is associated with severe viral, microbial and fungal infections during infancy.

Source: Journal of Allergy and Clinical Immunology - September 23, 2020 Category: Allergy & Immunology Authors: Amarilla B. Mandola, Nigel Sharfe, Zahra Nagdi, Harjit Dadi, Linda Vong, Daniele Merico, Bo Ngan, Brenda Reid, Chaim M. Roifman, CM Source Type: research