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STAT6 gain-of-function variant exacerbates multiple allergic symptoms.

Ichiro Takeuchi1, Kumiko Yanagi2, Shuji Takada3

  • 1Center for Pediatric Inflammatory Bowel Disease, Division of Gastroenterology, National Center for Child Health and Development, Tokyo, Japan; Department of Pediatrics and Adolescent Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan.

The Journal of Allergy and Clinical Immunology
|December 20, 2022
PubMed
Summary

A novel gain-of-function variant in signal transducer and activator of transcription 6 (STAT6) can cause severe allergic diseases. This discovery sheds light on monogenic immune defects underlying atopic disorders.

Keywords:
STAT6atopic dermatitiseosinophilic gastrointestinal disorderhyper-IgE syndromehypereosinophiliaprimary atopic disorders

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Area of Science:

  • Immunology
  • Genetics
  • Dermatology

Background:

  • Allergic diseases are typically considered multifactorial.
  • Recent research suggests monogenic immune defects can cause severe allergic inflammation.

Purpose of the Study:

  • To investigate the molecular basis of a patient with early-onset, severe allergic conditions.
  • To clarify the pathogenesis of atopic dermatitis and eosinophilic gastrointestinal disorder linked to a specific genetic variant.

Main Methods:

  • Whole-exome sequencing to identify genetic variants.
  • Functional studies using cell lines and knock-in mouse models.
  • Analysis of STAT6 transcriptional activity and protein localization.

Main Results:

  • A de novo heterozygous missense variant (p.Asp419Asn) in STAT6 was identified.
  • The STAT6 mutant showed upregulated transcriptional activity and nuclear localization, even without stimulation.
  • Knock-in mice exhibited dermatitis, elevated IgE, and increased type 2 cytokine expression.

Conclusions:

  • A novel STAT6 gain-of-function variant is identified as a potential cause of primary atopic disorders.
  • This finding highlights the role of specific genetic mutations in severe allergic inflammation.