combined cellular and humoral immune defects with granulomas

Term ID

DOID:0112253

Synonyms

• CCHIDG
• CID due to RAG 1/2 deficiency
• combined immunodeficiency due to RAG 1/2 deficiency
• combined immunodeficiency with granulomatosis
• combined immunodeficiency with skin 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. https://pubmed.ncbi.nlm.nih.gov/18463379/

References

• GARD:13587
• MESH:C567115
• OMIM:233650
• ORDO:157949

Ontology

Human Disease   ( DOID:0112253 )