(Q55784850)
English
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
A somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V.
- ALPS5
- CTLA4 haploinsufficiency
- Autoimmune lymphoproliferative syndrome type V
- ALPS due to CTLA4 haploinsuffiency
- AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V
- Autoimmune lymphoproliferative syndrome type 5
- CTLA-4 haploinsufficiency with autoimmune infiltration disease
- ALPS type V
- Ctla4 Haploinsufficiency With Autoimmune Infiltration
- ALPS type 5
- CHAI
- AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5
Statements
6 references
C126341
1 reference
Identifiers
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