KEGG   VARIANT: 11274v1
Entry
11274v1                      Variant                               
Name
USP18 mutation
Type
Loss of function
Gene
USP18  ubiquitin specific peptidase 18 [KO:K11846]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607057
Network
nt06518  JAK-STAT signaling
Disease
H00840  Pseudo-TORCH syndrome
Reference
  Authors
Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM
  Title
JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition.
  Journal
J Allergy Clin Immunol 148:911-925 (2021)
DOI:10.1016/j.jaci.2021.08.004
Reference
  Authors
Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM
  Title
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.
  Journal
J Exp Med 213:1163-74 (2016)
DOI:10.1084/jem.20151529
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