A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).
Johnston, Alicia M; Niemela, Julie; Rosenzweig, Sergio D; Fried, Ari J; Delmonte, Ottavia Maria; Fleisher, Thomas A; Kuehn, Hyesun.
J Clin Immunol
; 36(6): 541-3, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27368913
Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.
Ectodermal dysplasia with immunodeficiency caused by a branch-point mutation in IKBKG/NEMO.
Novel hypomorphic mutation in IKBKG impairs NEMO-ubiquitylation causing ectodermal dysplasia, immunodeficiency, incontinentia pigmenti, and immune thrombocytopenic purpura.
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
Functional Evaluation of an IKBKG Variant Suspected to Cause Immunodeficiency Without Ectodermal Dysplasia.
Two-sided ubiquitin binding of NF-κB essential modulator (NEMO) zinc finger unveiled by a mutation associated with anhidrotic ectodermal dysplasia with immunodeficiency syndrome.
Dendritic cells from humans with hypomorphic mutations in IKBKG/NEMO have impaired mitogen-activated protein kinase activity.
Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency.
Crystal structure of a vFlip-IKKgamma complex: insights into viral activation of the IKK signalosome.
Congenital alterations of NEMO glutamic acid 223 result in hypohidrotic ectodermal dysplasia and immunodeficiency with normal serum IgG levels.