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THE CLINICAL AND IMMUNOLOGICAL MANIFESTATIONS OF A NEW STAT3 MUTATION ASSOCIATED WITH HYPER IGE SYNDROME

Lecture Time
10:53 - 10:54
Presenter
  • Jen-Yu Wang, Taiwan
Room
Poster Area
Date
20.09.2019, Friday
Session Time
10:00 - 17:00
Board Number
154
Presentation Topic
Other

Abstract

Background and Aims

The hyper IgE syndrome is a congenital multisystem disorder characterized by eczema and infections. We reported a 27-year-old female with severe eczema, asthma, recurrent cellulitis, gingivitis, mastitis, and pneumonia since childhood. She also had bronchiectasis, pneumatocele, retained primary teeth, spontaneous right rib fracture and brain ischemia. Her 4-year-old son had recurrent pneumonia, cellulitis, severe eczema and chronic mucocutaneous candidiasis. The most common causal pathogen of these episodes was Staphylococcus aureus.

Methods

We collected the blood from the mother and son. Six healthy adults and two healthy children were enrolled for comparison. The PBMCs were sent for functional analyses and serum cytokines were measured with ELISA.

Genomic DNA was extracted from the blood cells, and the STAT3 gene was sequenced.

Results

The patients had marked elevated serum total immunoglobulin E (20378.67 IU/mL and 2728 IU/mL respectively, reference range: 1.31 -165.3 IU/mL), persisted eosinophilia up to 8494 cells/μL, normal polymorphonuclear granulocyte (PMN) bacterial killing, chemotaxis and phagocytosis functions, normal complement levels (C3, C4, CH50), and normal IgG, IgA, IgM levels. Cytokine levels of CXCL1, CXCL10, sCD40L, IL-12p40, IL-9, and TNF-α were elevated.

Their STAT3 gene sequencing showed the same point mutation in exon 20, encoding the SH2 domain. This heterozygous missense mutation of A1843G led to a K615E substitution.

Conclusions

The patients were diagnosed as autosomal dominant hyper IgE syndrome with National Institutes of Health score of 70 and 56, respectively. This A1843G was a new mutation associated with hyper IgE syndrome.

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