Article
Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.
The Journal of allergy and clinical immunology - 1 Mar 2018
Petersheim Daniel, Massaad Michel J, Lee Saetbyul, Scarselli Alessia, Cancrini Caterina, Moriya Kunihiko, Sasahara Yoji, Lankester Arjan C, Dorsey Morna, Di Giovanni Daniela, Bezrodnik Liliana, Ohnishi Hidenori, Nishikomori Ryuta, Tanita Kay, Kanegane Hirokazu, Morio Tomohiro, Gelfand Erwin W, Jain Ashish, Secord Elizabeth, Picard Capucine, Casanova Jean-Laurent, Albert Michael H, Torgerson Troy R, Geha Raif S
Abstract excerpt
BACKGROUND: Autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (AD EDA-ID) is caused by heterozygous point mutations at or close to serine 32 and serine 36 or N-terminal truncations in IκBα that impair its phosphorylation and degradation and thus activation of the canonical nuclear factor κ light chain enhancer of activated B cells (NF-κB) pathway. The outcome of hematopoietic stem cell...
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