ABSTRACT
Objective:
To summarize the clinical features of
children with autosomal dominant
hyper-IgE syndrome (AD-HIES) and the
differential diagnosis of
hyper-IgE syndrome and allergic
diseases as well.
Methods:
All clinical data, including general information, clinical features, and genetic changes, from 7
children with AD-HIES
who were diagnosed in
Beijing Children′s
Hospital Affiliated to
Capital Medical
University from April 2016 to June 2020 were analyzed retrospectively.The diagnostic criteria are based on the
National Institutes of Health′s (NIH)′s
hyper-IgE syndrome score and combined with the results of
gene detection, shown as follows (1) NIH score over 40, with
signal transducer and activator of transcription 3 gene ( STAT3) pathogenic
mutation; (2) NIH score between 20 and 40, with reported STAT3 pathogenic
mutation; (3) NIH score less than 20 points was excluded.
Results:
There were 3
males and 4
females.The
onset age of 7 cases was within 2 months after
birth, and the mean age at
diagnosis was 3 years old.All seven cases had recurrent
skin or
lung infections, with 4 cases having
skin and
lung infections, 1 case of
skin abscesses at the
BCG vaccination site, and 2 cases without
skin infection suffering from recurrent
pneumonia.The mean
onset age of
skin abscess in 5 cases was 1.5 years, and
pus culture of 3 cases were
Staphylococcus aureus.Four cases developed
bullae and 6 cases had
lung infections.Four cases had
otitis media, and oral
thrush was seen in 4 cases.One case of
skin and
lung infection developed
liver abscess and
sepsis.Seven cases had
eczema, which was disco-vered in the neonatal period for 6 cases.Four cases had the symptoms of
eczema for the first visit.Two cases had
food allergy, and 1 case had recurrent
wheezing within 1 year old.The
serum IgE level and
blood eosinophil count in 7
children were elevated.All
children had heterozygous pathogenic
mutations in STAT3.Six
patients had de novo
mutations.There were 6 different
mutation sites.The 4
mutation sites were reported c.1145G>A, c.1144C>T, and c. 1699A>G were
missense mutations, and c. 1139+ 5G>A was splicing
mutation.Two
mutation sites had not been reported c.1031A>C was
missense mutation, and c. 2050G>T was
nonsense mutation.The pathogenic grade of them were likely pathogenic, and the NIH score of 2 cases were above 40 score, which was consistent with the
clinical diagnosis of
hyper-IgE syndrome.
Conclusions:
Eczema is a common and early clinical manifestation of
hyper-IgE syndrome, along with elevated
IgE levels and
eosinophil counts that need to be differentiated from allergic
diseases.On the contrary, it often had recurrent
skin abscesses or
pneumonia, which was prone to
bullae.The clinical manifestations of young
children were atypical, and
genetic testing was helpful for
early diagnosis.