KEGG   DISEASE: Systemic autoinflammatory disease with vasculitis
Entry
H02672                      Disease                                
Name
Systemic autoinflammatory disease with vasculitis
Description
Systemic autoinflammatory disease with vasculitis (SAIDV) is a severe perinatal-onset, systemic inflammation. It has been reported that gain-of-function mutations in LYN associated with this disease. LYN is a member of the Src family of protein tyrosine kinases, and plays an important role in the regulation of innate and adaptive immune responses.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A60  Monogenic autoinflammatory syndromes
    H02672  Systemic autoinflammatory disease with vasculitis
Gene
LYN [HSA:4067] [KO:K05854]
Other DBs
ICD-11: 4A60.Y
OMIM: 620376
Reference
PMID:36122175
  Authors
Louvrier C, El Khouri E, Grall Lerosey M, Quartier P, Guerrot AM, Bader Meunier B, Chican J, Mohammad M, Assrawi E, Daskalopoulou A, Arenas Garcia A, Copin B, Piterboth W, Dastot Le Moal F, Karabina SA, Amselem S, Giurgea I
  Title
De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.
  Journal
Arthritis Rheumatol 75:468-474 (2023)
DOI:10.1002/art.42354
Reference
PMID:36932076
  Authors
de Jesus AA, Chen G, Yang D, Brdicka T, Ruth NM, Bennin D, Cebecauerova D, Malcova H, Freeman H, Martin N, Svojgr K, Passo MH, Bhuyan F, Alehashemi S, Rastegar AT, Uss K, Kardava L, Marrero B, Duric I, Omoyinmi E, Peldova P, Lee CR, Kleiner DE, Hadigan CM, Hewitt SM, Pittaluga S, Carmona-Rivera C, Calvo KR, Shah N, Balascakova M, Fink DL, Kotalova R, Parackova Z, Peterkova L, Kuzilkova D, Campr V, Sramkova L, Biancotto A, Brooks SR, Manes C, Meffre E, Harper RL, Kuehn H, Kaplan MJ, Brogan P, Rosenzweig SD, Merchant M, Deng Z, Huttenlocher A, Moir SL, Kuhns DB, Boehm M, Skvarova Kramarzova K, Goldbach-Mansky R
  Title
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome.
  Journal
Nat Commun 14:1502 (2023)
DOI:10.1038/s41467-023-36941-y
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