Ontology highlight
ABSTRACT:
SUBMITTER: Asano T
PROVIDER: S-EPMC8217968 | biostudies-literature | 2021 Aug
REPOSITORIES: biostudies-literature
The Journal of experimental medicine 20210617 8
Most patients with autosomal dominant hyper-IgE syndrome (AD-HIES) carry rare heterozygous STAT3 variants. Only six of the 135 in-frame variants reported have been experimentally shown to be dominant negative (DN), and it has been recently suggested that eight out-of-frame variants operate by haploinsufficiency. We experimentally tested these 143 variants, 7 novel out-of-frame variants found in HIES patients, and other STAT3 variants from the general population. Strikingly, all 15 out-of-frame v ...[more]