Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey
MO Chandesris, I Melki, A Natividad, A Puel, C Fieschi… - Medicine, 2012 - journals.lww.com
Autosomal dominant deficiency of signal transducer and activator of transcription 3 (STAT3)
is the main genetic etiology of hyper-immunoglobulin (Ig) E syndrome. We documented the
molecular, cellular, and clinical features of 60 patients with heterozygous STAT3 mutations
from 47 kindreds followed in France. We identified 11 known and 13 new mutations of
STAT3. Low levels of interleukin (IL)-6–dependent phosphorylation and nuclear
translocation (or accumulation) of STAT3 were observed in Epstein-Barr virus-transformed B …
is the main genetic etiology of hyper-immunoglobulin (Ig) E syndrome. We documented the
molecular, cellular, and clinical features of 60 patients with heterozygous STAT3 mutations
from 47 kindreds followed in France. We identified 11 known and 13 new mutations of
STAT3. Low levels of interleukin (IL)-6–dependent phosphorylation and nuclear
translocation (or accumulation) of STAT3 were observed in Epstein-Barr virus-transformed B …