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
T-cell Defects in a Patient with NFKBIA Gene Mutation.
Wu J et al.
Journal of Clinical Immunology, 2024
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
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.
Moriya K et al.
Journal of Clinical Immunology, 2018
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
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
Advances in basic and clinical immunology in 2012.
Chinen J et al.
The Journal of Allergy and Clinical Immunology, 2013
Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T et al.
Allergology International : Official Journal of the Japanese Society of Allergology, 2012
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