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Autoimmune lymphoproliferative syndrome, type III; ALPS3

Disease ID:106
Name:Autoimmune lymphoproliferative syndrome, type III; ALPS3
Associated with:1 target
Synonyms
Autoimmune lymphoproliferative syndrome
Database Links
Disease Ontology: DOID:6688
OMIM: 615559
Orphanet: ORPHA3261

Targets

protein kinase C delta
References:  1
Mutations:  protein kinase C delta is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Autoimmune lymphoproliferative syndrome, type III; ALPS3

References

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1. Kuehn HS, Niemela JE, Rangel-Santos A, Zhang M, Pittaluga S, Stoddard JL, Hussey AA, Evbuomwan MO, Priel DA, Kuhns DB et al.. (2013) Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans. Blood, 121 (16): 3117-25. [PMID:23430113]