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DO Term : immunodeficiency 60 [DOID:0111954] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15.
  • synonyms:
  • BRIDA,
  • UMLS_CUI:C5193072,
  • OMIM:618394,
  • IMD60,
  • 618394,
  • BACH2-related immunodeficiency and autoimmunity
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