KEGG   VARIANT: 939v1
Entry
939v1                      Variant                                 
Name
CD27 mutation
Type
Loss of function
Gene
CD27  CD27 molecule [KO:K05144]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 186711
Network
nt06516  TNF signaling
Disease
H01970  Lymphoproliferative syndrome
Reference
PMID:22801960
  Authors
Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, Schwendinger M, Haas OA, Fritsch G, Pickl WF, Forster-Waldl E, Borkhardt A, Boztug K, Bienemann K, Seidel MG
  Title
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.
  Journal
Haematologica 98:473-8 (2013)
DOI:10.3324/haematol.2012.068791
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