DISEASE: Autoinflammation, immune dysregulation, and eosinophilia


Entry
H02537                      Disease                                
Name
Autoinflammation, immune dysregulation, and eosinophilia
Description
Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) is an autosomal dominant systemic immune dysregulatory syndrome caused by gain-of-function mutations in JAK1. JAK-STAT signaling pathway plays an integral role in extracellular cytokine and growth factor signaling, as well as in controlling hematopoiesis and immune function. It has been reported that AIIDE is rescued by JAK inhibitor therapy.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Allergies and autoimmune diseases
   H02537  Autoinflammation, immune dysregulation, and eosinophilia
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Nonorgan specific systemic autoimmune disorders
   4A4Y  Other specified nonorgan specific systemic autoimmune disorders
    H02537  Autoinflammation, immune dysregulation, and eosinophilia
Related
pathway
hsa04630  JAK-STAT signaling pathway
hsa04658  Th1 and Th2 cell differentiation
hsa04659  Th17 cell differentiation
Gene
JAK1 [HSA:3716] [KO:K11217]
Other DBs
ICD-11: 4A4Y
MeSH: D056660
OMIM: 618999
Reference
PMID:28111307
  Authors
Del Bel KL, Ragotte RJ, Saferali A, Lee S, Vercauteren SM, Mostafavi SA, Schreiber RA, Prendiville JS, Phang MS, Halparin J, Au N, Dean JM, Priatel JJ, Jewels E, Junker AK, Rogers PC, Seear M, McKinnon ML, Turvey SE
  Title
JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome.
  Journal
J Allergy Clin Immunol 139:2016-2020.e5 (2017)
DOI:10.1016/j.jaci.2016.12.957
Reference
PMID:32750333
  Authors
Gruber CN, Calis JJA, Buta S, Evrony G, Martin JC, Uhl SA, Caron R, Jarchin L, Dunkin D, Phelps R, Webb BD, Saland JM, Merad M, Orange JS, Mace EM, Rosenberg BR, Gelb BD, Bogunovic D
  Title
Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.
  Journal
Immunity 53:672-684.e11 (2020)
DOI:10.1016/j.immuni.2020.07.006

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  All links  
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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