Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency.

In conclusion, pathogenic stop variants in the ARD of NFKB2 can cause 'infection-only' CVID with an abnormal B-cell phenotype and a variable clinical penetrance. PMID: 30953794 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/30953794?dopt=Abstract

Source: Clinical Immunology - April 2, 2019 Category: Allergy & Immunology Authors: Tuijnenburg P, Allen HL, de Bree GJ, Savic S, Jansen MH, Stockdale C, Simeoni I, Ten Berge IJM, van Leeuwen EMM, BioResource NIHR, Thaventiran JE, Kuijpers TW Tags: Clin Immunol Source Type: research