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GTR Home > Conditions/Phenotypes > Immunodeficiency 60

Immunodeficiency 60

Synonyms
IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMMUNODEFICIENCY AND AUTOIMMUNITY, BACH2-RELATED

Summary

Immunodeficiency-60 and autoimmunity (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease and recurrent sinopulmonary infections. The age at symptom onset is highly variable, ranging from infancy to mid-adulthood. Laboratory studies show dysregulation of both B and T cells, with variably decreased immunoglobulin production, decreased T-regulatory cells, and overall impaired lymphocyte maturation (summary by Afzali et al., 2017). [from OMIM]

Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BTBD25, IMD60, BACH2
    Summary: BTB domain and CNC homolog 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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