Associated Papers
A germline IκBα mutation outside the signal reception domain blocks nuclear translocation of NFκB1 and associates with autoinflammation-like features.
Elsayed A et al.
Annals of the Rheumatic Diseases, 2025
A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response.
Wen W et al.
Genes & Diseases, 2022
Evolutionary history of human colitis-associated colorectal cancer.
Baker AM et al.
Gut, 2019
29991641 (PubMed )
Supplement: gutjnl-2018-316191supp005.xlsx › UC05
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
Petersheim D et al.
The Journal of Allergy and Clinical Immunology, 2018
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency.
Boisson B et al.
Journal of Clinical Immunology, 2017
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