Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency.

ABSTRACT:

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 transplantation is poor in patients with AD EDA-ID despite achievement of chimerism. Mice heterozygous for the serine 32I mutation in IκBα have impaired noncanonical NF-κB activity and defective lymphorganogenesis.

Objective

We sought to establish genotype-phenotype correlation in patients with AD EDA-ID.

Methods

A disease severity scoring system was devised. Stab

SUBMITTER: Petersheim D 

PROVIDER: S-EPMC5733640 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature