Disease
Severe combined immunodeficiency
Profound adaptive immune impairment; molecular causes are heterogeneous.
Also called: SCID, severe combined immunodeficiency, bubble boy disease
In short
- 1What it is: a disease in diseases and immunopathology.
- 2How it connects: acts on 3 and is affected by 1 concepts — mostly 1 cell, 1 pathway, 2 therapy.
- 3Where it sits: failure, disease on the 15-step immune chain.
What it does
X-SCID (IL2RG/γc → no T/NK); ADA-SCID (dATP accumulation → lymphocyte apoptosis); RAG1/2 (no V(D)J recombination).
Its connections at a glance
Each dot is a concept directly linked to Severe combined immunodeficiency. Colours show the kind of concept.
Sources & evidenceloading…
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Graph ID D008 · concept status: established. Select any connection above to inspect evidence for that specific link.