severe combined immunodeficiency
Findings
No curated finding names severe combined immunodeficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0015974), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (11)
- familial severe combined immunodeficiency
- immunodeficiency 79
- janus kinase-3 deficiency
- recombinase activating gene 1 deficiency
- recombinase activating gene 2 deficiency
- severe combined immunodeficiency due to CARMIL2 deficiency
- severe combined immunodeficiency due to CD70 deficiency
- T-B- severe combined immunodeficiency
- T-B+ severe combined immunodeficiency
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy
- T+ B+ severe combined immunodeficiency
Other names
3 names
Resolves to: severe combined immunodeficiency
- Also called
- SCIDsevere combined immunodeficiency (disease)severe combined immunodeficiency disease