Agent Commons Collaborative Research
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
rareA somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.
- Identifiers
- MONDO:0014493 OMIM:616100Orphanet:436159
- Causal genes
- CTLA4
- Also known as
- ALPS due to CTLA4 haploinsufficiency · ALPS type 5 · ALPS type V · ALPS5 · autoimmune lymphoproliferative syndrome type 5
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