Disease association ontology term - MONDO:0015974 - severe combined immunodeficiency
Term summary
- ID
- MONDO:0015974
- Name
- severe combined immunodeficiency
- Ontology or CV name
- Disease association
- Definition
- 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.
