DISEASE: Infantile-onset multisystem autoimmune disease


Entry
H02540                      Disease                                
Name
Infantile-onset multisystem autoimmune disease
Description
Infantile-onset multisystem autoimmune disease (ADMIO) is typified by hypogammaglobulinemia and onset of autoimmune phenomena during early childhood that include diabetes and autoimmune enteritis.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Allergies and autoimmune diseases
   H02540  Infantile-onset multisystem autoimmune disease
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Nonorgan specific systemic autoimmune disorders
   4A43  Overlap or undifferentiated nonorgan specific systemic autoimmune disease
    H02540  Infantile-onset multisystem autoimmune disease
Related
pathway
hsa04659  Th17 cell differentiation
Gene
(ADMIO1) STAT3 [HSA:6774] [KO:K04692]
(ADMIO2) ZAP70 [HSA:7535] [KO:K07360]
Other DBs
ICD-11: 4A43.Y
MeSH: D001327
OMIM: 615952 617006
Reference
PMID:25038750
  Authors
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, Heiskanen K, Heiskanen-Kosma T, Kajosaari M, Murphy NP, Milenkovic T, Seppanen M, Lernmark A, Mustjoki S, Otonkoski T, Kere J, Morgan NG, Ellard S, Hattersley AT
  Title
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
  Journal
Nat Genet 46:812-814 (2014)
DOI:10.1038/ng.3040
Reference
PMID:26783323
  Authors
Chan AY, Punwani D, Kadlecek TA, Cowan MJ, Olson JL, Mathes EF, Sunderam U, Fu SM, Srinivasan R, Kuriyan J, Brenner SE, Weiss A, Puck JM
  Title
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.
  Journal
J Exp Med 213:155-65 (2016)
DOI:10.1084/jem.20150888
Reference
PMID:31771449
  Authors
Terry J, Langlois S, Rupps R, Gill H
  Title
Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation.
  Journal
Pediatr Dev Pathol 23:306-311 (2020)
DOI:10.1177/1093526619890734

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Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (3)   
   PubMed (3)   
All databases (9)   

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