Associated Papers
A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.
Chear CT et al.
Genes, 2022
A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation.
Conti F et al.
Journal of Clinical Immunology, 2020
Mendelian diseases of dysregulated canonical NF-κB signaling: From immunodeficiency to inflammation.
Schnappauf O et al.
Journal of Leukocyte Biology, 2020
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
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
A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation.
Nagasawa M et al.
Journal of Clinical Immunology, 2017
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA.
Staples E 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
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
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?
Uyar B et al.
Molecular Biosystems, 2014
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
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency.
McDonald DR et al.
The Journal of Allergy and Clinical Immunology, 2007
Lack of association of the 3'-UTR polymorphism in the NFKBIA gene with Crohn's disease in an Israeli cohort.
Leshinsky-Silver E et al.
International Journal of Colorectal Disease, 2007
Inherited disorders of human Toll-like receptor signaling: immunological implications.
Ku CL et al.
Immunological Reviews, 2005
Autosomal-dominant primary immunodeficiencies.
Lawrence T et al.
Current Opinion in Hematology, 2005
Finding NEMO: genetic disorders of NF-[kappa]B activation.
Orange JS et al.
The Journal of Clinical Investigation, 2003
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
Courtois G et al.
The Journal of Clinical Investigation, 2003