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severe combined immunodeficiency

Disease Summary
Associated Targets (32)
Tbio

20

Tclin

8

Tchem

4


GARD Rare
Mondo Description Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells.
Disease Ontology Description A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems.
Mondo Term and Equivalent IDs
MONDO:0015974:  severe combined immunodeficiency
COHD:29783: 
GARD:0007628: 
MESH:D016511: 
NCIT:C3472: 
Orphanet:183660: 
SCTID:31323000: 
UMLS:C0085110: