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congenital combined immunodeficiency

Disease Summary
Associated Targets (68)
Tbio

42

Tclin

12

Tchem

11

Tdark

3


Mondo Description 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.
Disease Ontology Description A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity.
Mondo Term and Equivalent IDs
MONDO:0015131:  congenital combined immunodeficiency
NCIT:C27871: 
Orphanet:101972: 
UMLS:C0494261: