Search Ontology:
Human Disease

immunodeficiency 60

Term ID
DOID:0111954
Synonyms
  • BACH2-related immunodeficiency and autoimmunity
  • BRIDA
  • IMD60
Definition
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. https://pubmed.ncbi.nlm.nih.gov/28530713/
References
Ontology
Human Disease   ( DOID:0111954 )
Relationships
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Genes Involved
Zebrafish Models