COVID-19 research

Gene: NFKBID

Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. The only variants are structural rearrangements that include NFKBID amongst other genes. PMID 26973645 reports "heterozygous mutation in the nfkbid gene encoding the atypical IκB protein IκBNS led to reduced steady state IgM and IgG3 antibody levels and impaired response to vaccination with TI-2 antigens in mice". Thus, variants in human NFKBID may also result in reduced levels of IgM and IgG3 and compromized vaccination responses.

Created: 14 Apr 2020, 1:07 p.m. | Last Modified: 14 Apr 2020, 1:07 p.m.

Panel Version: 0.83

Red List (low evidence)

not linked to immunodeficiency to my knowledge

Created: 29 Jun 2018, 2:54 p.m.

Comment on list classification: Changed from Amber to Red, no published cases of immunodeficiency to date. Red review from external expert review. Referred back to Victorian Clinical Genetics Services for evidences.

Created: 4 Jul 2018, 4:04 p.m.

Comment on list classification: This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list from Victorian Clinical Genetics Services. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1. No disorder or MOI was listed in the submitted list.

Created: 26 Jun 2018, 12:45 p.m.