KEGG   VARIANT: 959v1
Entry
959v1                      Variant                                 
Name
CD40LG mutation
Type
Loss of function
Gene
CD40LG  CD40 ligand [KO:K03161]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300386
Network
nt06516  TNF signaling
Disease
H00086  Immunodeficiency with hyper-IgM
Reference
PMID:26903548
  Authors
Hubbard N, Hagin D, Sommer K, Song Y, Khan I, Clough C, Ochs HD, Rawlings DJ, Scharenberg AM, Torgerson TR
  Title
Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome.
  Journal
Blood 127:2513-22 (2016)
DOI:10.1182/blood-2015-11-683235
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