KEGG   VARIANT: 4068v1
Entry
4068v1                      Variant                                
Name
SH2D1A mutation
Type
Loss of function
Gene
SH2D1A  SH2 domain containing 1A [KO:K07990]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300490
Network
nt06546  IgSF CAM signaling
Disease
H01969  X-linked lymphoproliferative syndrome
Reference
PMID:40574867
  Authors
Li J, Lv L, Wei Q, Pang W, He C, Wu H, Guo L
  Title
X-linked lymphoproliferative disease type 1: a clinical and genetic update.
  Journal
Front Immunol 16:1620327 (2025)
DOI:10.3389/fimmu.2025.1620327
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