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A novel STAT3 mutation associated with hyper immunoglobulin E syndrome with a paucity of connective tissue signs
- Source :
- Pediatrics International. 63:510-515
- Publication Year :
- 2021
- Publisher :
- Wiley, 2021.
-
Abstract
- 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.
- Subjects :
- Male
STAT3 Transcription Factor
Proband
Heterozygote
Connective tissue
030204 cardiovascular system & hematology
medicine.disease_cause
Immunoglobulin E
03 medical and health sciences
0302 clinical medicine
030225 pediatrics
medicine
Humans
Family history
STAT3
Mutation
biology
business.industry
medicine.anatomical_structure
Connective Tissue
Child, Preschool
Pediatrics, Perinatology and Child Health
Autosomal dominant hyper-IgE syndrome
Immunology
biology.protein
business
Job Syndrome
Ex vivo
Subjects
Details
- ISSN :
- 1442200X and 13288067
- Volume :
- 63
- Database :
- OpenAIRE
- Journal :
- Pediatrics International
- Accession number :
- edsair.doi.dedup.....ac7481a34d6218df6c962ae09fef941c