PMID- 32920916
OWN - NLM
STAT- MEDLINE
DCOM- 20210818
LR  - 20220531
IS  - 1442-200X (Electronic)
IS  - 1328-8067 (Linking)
VI  - 63
IP  - 5
DP  - 2021 May
TI  - A novel STAT3 mutation associated with hyper immunoglobulin E syndrome with a 
      paucity of connective tissue signs.
PG  - 510-515
LID - 10.1111/ped.14463 [doi]
AB  - BACKGROUND: A heterozygous mutation of STAT3 causes autosomal dominant hyper 
      immunoglobulin E (IgE) syndrome; however, there are still many unclear points 
      regarding the clinical spectrum of this syndrome. METHODS: In addition to a 
      clinical description of patients in terms of pedigree, a genetic analysis, 
      quantitation of peripheral blood Th17 and ex vivo IL-17 production were carried 
      out. RESULTS: The proband, a 2-year-old boy (Patient 1) with early onset atopic 
      dermatitis-like eczema and recurrent bacterial infections, was suspected of 
      autosomal dominant hyper immunoglobulin E syndrome on the basis of his symptoms 
      and family history. His mother (Patient 2) also had skin eczema and recurrent 
      bacterial infections, and his sister (Patient 3) had skin eczema. A novel STAT3 
      mutation (p.S476F) was detected in all three patients, but not in the father, who 
      had no such symptoms. A significant decrease in peripheral blood Th17 subsets and 
      IL-17 production was found in all the patients. Curiously, all three patients 
      carrying the p.S476F mutation in STAT3 lacked connective tissue signs such as 
      distinctive facial features, retention of primary teeth, and joint 
      hyperextensibility. CONCLUSIONS: Autosomal dominant hyper IgE syndrome should, 
      perhaps, be considered even if patients lack connective tissue signs, as long as 
      hypersensitivity to infection and skin manifestations with hyper IgE are present.
CI  - (c) 2020 Japan Pediatric Society.
FAU - Yoshida, Yoichiro
AU  - Yoshida Y
AUID- ORCID: 0000-0001-6991-6285
AD  - Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan.
FAU - Nagamori, Tsunehisa
AU  - Nagamori T
AUID- ORCID: 0000-0002-3782-0200
AD  - Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan.
FAU - Takahashi, Hironori
AU  - Takahashi H
AD  - Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan.
FAU - Ishibazawa, Emi
AU  - Ishibazawa E
AD  - Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan.
FAU - Shimada, Sorachi
AU  - Shimada S
AD  - Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan.
FAU - Kawai, Toshinao
AU  - Kawai T
AUID- ORCID: 0000-0002-4152-9301
AD  - Division of Immunology, National Center for Child Health and Development, Tokyo, 
      Japan.
FAU - Azuma, Hiroshi
AU  - Azuma H
AD  - Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20210308
PL  - Australia
TA  - Pediatr Int
JT  - Pediatrics international : official journal of the Japan Pediatric Society
JID - 100886002
RN  - 0 (STAT3 Transcription Factor)
RN  - 0 (STAT3 protein, human)
RN  - 37341-29-0 (Immunoglobulin E)
SB  - IM
MH  - Child, Preschool
MH  - Connective Tissue
MH  - Heterozygote
MH  - Humans
MH  - Immunoglobulin E
MH  - *Job Syndrome/complications/diagnosis/genetics
MH  - Male
MH  - Mutation
MH  - STAT3 Transcription Factor/genetics
OTO - NOTNLM
OT  - STAT3 mutation
OT  - Th17 subset
OT  - autosomal dominant hyper IgE syndrome
OT  - connective tissue sign
EDAT- 2020/09/14 06:00
MHDA- 2021/08/19 06:00
CRDT- 2020/09/13 20:43
PHST- 2020/08/20 00:00 [revised]
PHST- 2019/11/20 00:00 [received]
PHST- 2020/08/31 00:00 [accepted]
PHST- 2020/09/14 06:00 [pubmed]
PHST- 2021/08/19 06:00 [medline]
PHST- 2020/09/13 20:43 [entrez]
AID - 10.1111/ped.14463 [doi]
PST - ppublish
SO  - Pediatr Int. 2021 May;63(5):510-515. doi: 10.1111/ped.14463. Epub 2021 Mar 8.