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GTR Home > Conditions/Phenotypes > Autoinflammation, immune dysregulation, and eosinophilia

Autoinflammation, immune dysregulation, and eosinophilia

Synonyms
ATOPIC DERMATITIS, ENTERITIS, COLITIS, AND EOSINOPHILIA

Summary

Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant disorder characterized by onset of severe atopic dermatitis and chronic gastrointestinal inflammation, mainly involving the colon, in infancy or early childhood. Affected individuals tend to have asthma and food or environmental allergies, as well as poor overall growth with short stature. Severe liver involvement has also been reported (Takeichi et al., 2021). Laboratory studies show increased eosinophils with normal or increased IgE levels, as well as evidence of a hyperactive immune state, including increased erythrocyte sedimentation rate and C-reactive protein. Treatment with JAK inhibitors, such as ruxolitinib and tofacitinib, results in dramatic clinical improvement (summary by Gruber et al., 2020). [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AIIDE, JAK1A, JAK1B, JTK3, JAK1
    Summary: Janus kinase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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