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Related Concept Videos

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Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
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Related Experiment Video

Updated: Jul 11, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

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Published on: December 15, 2011

STAT3 mutations in the hyper-IgE syndrome.

Steven M Holland1, Frank R DeLeo, Houda Z Elloumi

  • 1National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA. smh@nih.gov

The New England Journal of Medicine
|September 21, 2007
PubMed
Summary
This summary is machine-generated.

Mutations in the STAT3 gene cause hyper-IgE syndrome, a rare immune disorder. This finding explains the genetic basis for both inherited and sporadic cases of this condition.

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Published on: April 20, 2021

Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Hyper-IgE syndrome (HIES), also known as Job's syndrome, is a rare primary immunodeficiency.
  • Characterized by dermatitis, recurrent infections, elevated IgE, and skeletal abnormalities.
  • Inheritance patterns include autosomal dominant and sporadic cases.

Purpose of the Study:

  • To investigate the genetic basis of hyper-IgE syndrome.
  • To identify candidate genes involved in HIES pathogenesis.
  • To elucidate the molecular mechanisms underlying HIES.

Main Methods:

  • Collected longitudinal clinical data from HIES patients and families.
  • Assayed cytokine levels and gene expression in leukocytes.
  • Sequenced the signal transducer and activator of transcription 3 (STAT3) gene.

Main Results:

  • Elevated proinflammatory gene transcripts found in neutrophils and mononuclear cells of HIES patients.
  • Increased tumor necrosis factor alpha and decreased monocyte chemoattractant protein 1 levels observed in patient cells.
  • Identified missense mutations and deletions in STAT3 in 50 familial and sporadic HIES cases, affecting key functional domains.

Conclusions:

  • Mutations in STAT3 are the underlying cause of sporadic and dominant forms of hyper-IgE syndrome.
  • These STAT3 mutations lead to an increased innate immune response and recurrent infections.
  • The findings provide a genetic explanation for the complex immunodeficiency and somatic features of HIES.