KEGG   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 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
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06518  JAK-STAT signaling
   H02540  Infantile-onset multisystem autoimmune disease
 Immune system
  nt06537  TCR/BCR signaling
   H02540  Infantile-onset multisystem autoimmune disease
Pathway
hsa04630  JAK-STAT signaling pathway
hsa04660  T cell receptor signaling pathway
Network
nt06518 JAK-STAT signaling
nt06537 TCR/BCR signaling
Gene
(ADMIO1) STAT3 [HSA:6774] [KO:K04692]
(ADMIO2) ZAP70 [HSA:7535] [KO:K07360]
(ADMIO3) CBLB [HSA:868] [KO:K22517]
(ADMIO4) PDCD1 [HSA:5133] [KO:K06744]
(ADMIO5) CD274 [HSA:29126] [KO:K06745]
Other DBs
ICD-11: 4A43.Y
MeSH: D001327
OMIM: 615952 617006 620430 621004 621235
Reference
  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
Reference
PMID:25038750 (ADMIO1)
  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 (ADMIO2)
  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:36006710 (ADMIO3)
  Authors
Janssen E, Peters Z, Alosaimi MF, Smith E, Milin E, Stafstrom K, Wallace JG, Platt CD, Chou J, El Ansari YS, Al Farsi T, Ameziane N, Al-Ali R, Calvo M, Rocha ME, Bauer P, Al-Sannaa NA, Al Sukaiti NF, Alangari AA, Bertoli-Avella AM, Geha RS
  Title
Immune dysregulation caused by homozygous mutations in CBLB.
  Journal
J Clin Invest 132:154487 (2022)
DOI:10.1172/JCI154487
Reference
PMID:34183838 (ADMIO4)
  Authors
Ogishi M, Yang R, Aytekin C, Langlais D, Bourgey M, Khan T, Ali FA, Rahman M, Delmonte OM, Chrabieh M, Zhang P, Gruber C, Pelham SJ, Spaan AN, Rosain J, Lei WT, Drutman S, Hellmann MD, Callahan MK, Adamow M, Wong P, Wolchok JD, Rao G, Ma CS, Nakajima Y, Yaguchi T, Chamoto K, Williams SC, Emile JF, Rozenberg F, Glickman MS, Rapaport F, Kerner G, Allington G, Tezcan I, Cagdas D, Hosnut FO, Dogu F, Ikinciogullari A, Rao VK, Kainulainen L, Beziat V, Bustamante J, Vilarinho S, Lifton RP, Boisson B, Abel L, Bogunovic D, Marr N, Notarangelo LD, Tangye SG, Honjo T, Gros P, Boisson-Dupuis S, Casanova JL
  Title
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
  Journal
Nat Med 27:1646-1654 (2021)
DOI:10.1038/s41591-021-01388-5
Reference
PMID:38634869 (ADMIO5)
  Authors
Johnson MB, Ogishi M, Domingo-Vila C, De Franco E, Wakeling MN, Imane Z, Resnick B, Williams E, Galao RP, Caswell R, Russ-Silsby J, Seeleuthner Y, Rinchai D, Fagniez I, Benson B, Dufort MJ, Speake C, Smithmyer ME, Hudson M, Dobbs R, Quandt Z, Hattersley AT, Zhang P, Boisson-Dupuis S, Anderson MS, Casanova JL, Tree TI, Oram RA
  Title
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
  Journal
J Exp Med 221:276702 (2024)
DOI:10.1084/jem.20231704
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