KEGG   VARIANT: 3937v1
Entry
3937v1                      Variant                                
Name
LCP2 mutation
Type
Loss of function
Gene
LCP2  lymphocyte cytosolic protein 2 [KO:K07361]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601603
Network
nt06537  TCR/BCR signaling
Disease
H02526  Disorders of adaptive immunity
Reference
  Authors
Latour S
  Title
Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling.
  Journal
Biomed J 45:321-333 (2022)
DOI:10.1016/j.bj.2022.01.013
Reference
  Authors
Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, Levy S, Beit Halevi T, Papazian M, Shwartz N, Somekh I, Levy-Mendelovich S, Wolach B, Gavrieli R, Vernitsky H, Barel O, Javasky E, Stauber T, Ma CA, Zhang Y, Amariglio N, Rechavi G, Hendel A, Yablonski D, Milner JD, Somech R
  Title
Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.
  Journal
J Exp Med 218:e20201062 (2021)
DOI:10.1084/jem.20201062
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