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Article

A Novel Biallelic REL Frameshift Variant p.(Tyr9Ilefs*2) Causing Immunodeficiency-92 With Profound c-Rel Deficiency.

Annals of human genetics - 1 Jul 2026

El-Hamri Mohsine-Ali, Sabky Zineb, Benyahya Nada, Abboussi Oualid, Lyahyai Jaber, Seffiani Abdelaziz

Abstract excerpt

BACKGROUND AND AIMS: Inborn errors of immunity (IEI) refer to a heterogeneous group of monogenic disorders caused by germline variants that disrupt immune function. Among these conditions, immunodeficiency 92 (IMD92), an extremely rare autosomal recessive disorder due to c Rel deficiency that results from pathogenic variants of the REL gene. c Rel is a key actor of the NF-κB pathway with major implications in the...

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PMID: 42117340
DOI: 10.1111/ahg.70040

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REL

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