KEGG   DISEASE: Autoinflammation with pulmonary and cutaneous vasculitis
Entry
H02660                      Disease                                
Name
Autoinflammation with pulmonary and cutaneous vasculitis
Description
Autoinflammation with pulmonary and cutaneous vasculitis (AIPCV) is characterized by cutaneous vasculitis and chronic pulmonary inflammation that progresses to fibrosis. It has been reported that AIPCV is caused by a de novo activating mutation in hematopoietic cell kinase (HCK). HCK is a member of the Src family of non-receptor tyrosine kinases.
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
    H02660  Autoinflammation with pulmonary and cutaneous vasculitis
Gene
HCK [HSA:3055] [KO:K08893]
Other DBs
ICD-11: 4A60.Y
OMIM: 620296
Reference
PMID:34536415
  Authors
Kanderova V, Svobodova T, Borna S, Fejtkova M, Martinu V, Paderova J, Svaton M, Kralova J, Fronkova E, Klocperk A, Pruhova S, Lee-Kirsch MA, Hornofova L, Koblizek M, Novak P, Zimmermannova O, Parackova Z, Sediva A, Kalina T, Janda A, Kayserova J, Dvorakova M, Macek M, Pohunek P, Sedlacek P, Poh A, Ernst M, Brdicka T, Hrusak O, Lebl J
  Title
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.
  Journal
J Allergy Clin Immunol 149:1464-1472.e3 (2022)
DOI:10.1016/j.jaci.2021.07.046
LinkDB

» Japanese version

DBGET integrated database retrieval system