KEGG   VARIANT: 3575v1
Entry
3575v1                      Variant                                
Name
IL7R mutation
Type
Loss of function
Gene
IL7R  interleukin 7 receptor [KO:K05072]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 146661
Network
nt06518  JAK-STAT signaling
Disease
H00091  T-B+Severe combined immunodeficiency
Reference
PMID:10899029
  Authors
Puel A, Leonard WJ
  Title
Mutations in the gene for the IL-7 receptor result in T(-)B(+)NK(+) severe combined immunodeficiency disease.
  Journal
Curr Opin Immunol 12:468-73 (2000)
DOI:10.1016/s0952-7915(00)00122-9
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