Disease

combined cellular and humoral immune defects with granulomas

Definition
A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12.
Synonyms
  • CCHIDG
  • CID due to RAG 1/2 deficiency
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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