Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 60
DOID:0111954
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

immunodeficiency 60

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.
Synonyms
  • BACH2-related immunodeficiency and autoimmunity
  • BRIDA
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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