A broad classification of inherited disorders presenting at birth that affect both the cell-mediated and humoral aspects of the immune response. Circulating numbers of B lymphocytes, T lymphocytes and NK cells are variable but where present do not function properly. Susceptibility to infection is the primary concern. [ NCIT:C27871 ]
Synonyms: congenital combined immunodeficiency CID combined immunodeficiency
Term information
- DOID:0111962 (MONDO:equivalentTo)
- GARD:19806 (Orphanet:101972)
- NCIT:C27871 (NCIT:C27871)
- DOID:628 (MONDO:equivalentTo)
- ICD9:279.2 (DOID:628)
- UMLS:C2711630 (MONDO:equivalentTo)
- Orphanet:101972 (MONDO:equivalentTo)
gard_rare, disease_grouping, rare, orphanet_rare, clingen, ordo_group_of_disorders
http://purl.obolibrary.org/obo/NCIT_C27871
http://purl.obolibrary.org/obo/DOID_628
http://www.orpha.net/ORDO/Orphanet_101972
http://linkedlifedata.com/resource/umls/id/C2711630
http://purl.obolibrary.org/obo/DOID_0111962
combined T cell and B cell immunodeficiency
combined T and B cell immunodeficiency