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Article

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation.

The Journal of allergy and clinical immunology - 1 Feb 2021

Mandola Amarilla B, Sharfe Nigel, Nagdi Zahra, Dadi Harjit, Vong Linda, Merico Daniele, Ngan Bo, Reid Brenda, Roifman Chaim M

Abstract excerpt

BACKGROUND: Genetic faults in several components of the nuclear factor-κB pathway cause immunodeficiency. Most defects lead to combined immunodeficiency with a range of severity. Heterozygous mutations in NFKB1 were associated with common variable immunodeficiency, however, homozygous mutations have not been described. OBJECTIVE: We studied the molecular basis of combined immunodeficiency in a patient who...

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PMID: 32980423
DOI: 10.1016/j.jaci.2020.08.040

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