Letter to the editorA rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome
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A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response
2022, Genes and DiseasesCitation Excerpt :The patient showed absent or low response to TLR4 and IL-1R in production of inflammatory cytokines and chemokines, and presented with medium impaired phosphorylation of p65. These data suggested that the activation of NF-κB in this patient was not completely damaged, which was consistent with reported patient (P5: E14X, Table 3)8 and other truncation mutation patients (P4: W11X, P6: Q9X, Table 3).13,14 However, our patient died at 7 months of age before hematopoietic stem cell transplantation (HSCT), much earlier than the other three truncation mutation patients.
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency
2018, Journal of Allergy and Clinical ImmunologyCitation Excerpt :These results strongly suggest that IκBα point mutants are significantly more stable than IκBα truncation mutants. Impaired production of inflammatory cytokines after activation of the canonical NF-κB pathway in patients with AD EDA-ID has been documented in individual case reports.22-28 These reports measured the production of different cytokines (IL-1 and/or IL-6 and/or TNF-α) by different cell types (PBMCs, monocytes, fibroblasts) using different modes of stimulation (LPS and/or TNF-α and/or IL-1), precluding useful comparison of inflammatory cytokine production in the patients.
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations
2017, BloodCitation Excerpt :These children probably account for less than 10% of the children with XR-EDA-ID reported worldwide.5 In contrast, 11 of the 14 reported patients with autosomal dominant EDA-ID, caused by gain-of-function mutations of NFKBIA, encoding IκBα, have undergone HSCT.16,31-41 This higher proportion of patients undergoing transplantation reflects both the greater severity and the homogeneity of this condition.
Mendelian Susceptibility to Infections with Viruses, Mycobacteria, Bacteria, and Candida
2016, Encyclopedia of ImmunobiologyImmune Deficiencies Caused by B Cell Defects
2015, Molecular Biology of B Cells: Second EditionThe diagnostic approach to monogenic very early onset inflammatory bowel disease
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This study was supported by the Ministry of Health, Labour and Welfare of Japan.
Disclosure of potential conflict of interest: The authors declare that they have no relevant conflicts of interest.