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
Lupus Vulgaris Revealing an IκBα Gain of Function Variant.
Tapiero B et al.
Journal of Clinical Immunology, 2023
A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response.
Wen W et al.
Genes & Diseases, 2022
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
Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.
Paciolla M et al.
Genes and Immunity, 2015
IKK-related genetic diseases: probing NF-κB functions in humans and other matters.
Senegas A et al.
Cellular and Molecular Life Sciences : Cmls, 2015
Defective lymphoid organogenesis underlies the immune deficiency caused by a heterozygous S32I mutation in IκBα.
Mooster JL et al.
The Journal of Experimental Medicine, 2015
Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.
Yoshioka T et al.
Journal of Clinical Immunology, 2013
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
Schimke LF et al.
Journal of Clinical Immunology, 2013
A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome.
Ohnishi H et al.
The Journal of Allergy and Clinical Immunology, 2012
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency.
Lopez-Granados E et al.
Human Mutation, 2008
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