KEGG   DISEASE: 高 IgE 症候群
エントリ  
H01968                                                             
名称    
高 IgE 症候群;
Job 症候群;
Buckley 症候群
  上位グループ
他のよく定義された免疫不全症候群 [DS:H00107]
原発性免疫不全症 [DS:H01725]
概要    
Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Most cases of HIES are sporadic although can be inherited as autosomal dominant and autosomal recessive traits. One of the involved genes in pathogenesis of HIES is STAT3 that causes autosomal dominant type. In most sporadic and autosomal dominant cases, the HIES is part of a multisystem disorder including abnormalities of the soft tissue, skeletal, and dental systems. In contrast, those with autosomal recessive-HIES have severe molluscum contagiosum and viral infections and may develop severe neurological complications. Recently, It has been reported that mutations in DOCK8, TYK2, and PGM3 cause autosomal recessive HIES.
カテゴリ  
免疫系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 04 免疫系の疾患
  原発性免疫不全症
   4A01  獲得免疫の疾患よる原発性免疫不全症
    H01968  高 IgE 症候群
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06518  JAK-STAT シグナリング
   H01968  高 IgE 症候群
パスウェイ 
hsa04630  JAK-STAT signaling pathway
ネットワーク
nt06518 JAK-STAT signaling
病因遺伝子 
(HIES1) STAT3 [HSA:6774] [KO:K04692]
(HIES2) DOCK8 [HSA:81704] [KO:K21852]
(HIES3) ZNF341 [HSA:84905] [KO:K24852]
(HIES4A/4B) IL6ST [HSA:3572] [KO:K05060]
(HIES5) IL6R [HSA:3570] [KO:K05055]
(HIES6) STAT6 [HSA:6778] [KO:K11225]
(HIES with mycobacteriosis) TYK2 [HSA:7297] [KO:K11219]
(HIES and cognitive impairment) PGM3 [HSA:5238] [KO:K01836]
リンク   
ICD-11: 4A01.34
MeSH: D007589
OMIM: 147060 243700 618282 619752 618523 618944 620532 611521 615816
文献    
  著者
Minegishi Y
  タイトル
Hyper-IgE syndrome.
  雑誌
Curr Opin Immunol 21:487-92 (2009)
DOI:10.1016/j.coi.2009.07.013
文献    
  著者
Hashemi H, Mohebbi M, Mehravaran S, Mazloumi M, Jahanbani-Ardakani H, Abtahi SH
  タイトル
Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities.
  雑誌
J Res Med Sci 22:53 (2017)
DOI:10.4103/jrms.JRMS_1050_16
文献    
  著者
Grimbacher B, Holland SM, Puck JM
  タイトル
Hyper-IgE syndromes.
  雑誌
Immunol Rev 203:244-50 (2005)
DOI:10.1111/j.0105-2896.2005.00228.x
文献    
PMID:17676033 (HIES1)
  著者
Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, Kawamura N, Ariga T, Pasic S, Stojkovic O, Metin A, Karasuyama H
  タイトル
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.
  雑誌
Nature 448:1058-62 (2007)
DOI:10.1038/nature06096
文献    
PMID:19776401 (HIES2)
  著者
Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC
  タイトル
Combined immunodeficiency associated with DOCK8 mutations.
  雑誌
N Engl J Med 361:2046-55 (2009)
DOI:10.1056/NEJMoa0905506
文献    
PMID:29907691 (HIES3)
  著者
Beziat V, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Levy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guerin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Muller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A, Casanova JL
  タイトル
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
  雑誌
Sci Immunol 3:3/24/eaat4956 (2018)
DOI:10.1126/sciimmunol.aat4956
文献    
PMID:32207811 (HIES4A)
  著者
Beziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachee-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot E, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A
  タイトル
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
  雑誌
J Exp Med 217:151577 (2020)
DOI:10.1084/jem.20191804
文献    
PMID:28747427 (HIES4B)
  著者
Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, Capitani M, McGowan SJ, Sweeney E, Weber A, Chen L, Bowness P, Riordan A, Cant A, Freeman AF, Milner JD, Holland SM, Frede N, Muller M, Schmidt-Arras D, Grimbacher B, Wall SA, Jones EY, Wilkie AOM, Uhlig HH
  タイトル
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
  雑誌
J Exp Med 214:2547-2562 (2017)
DOI:10.1084/jem.20161810
文献    
PMID:31235509 (HIES5)
  著者
Spencer S, Kostel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, Gurel M, Zhang Y, Sun G, Sabroe RA, Greene D, Rae W, Shahin T, Kania K, Ardy RC, Thian M, Staples E, Pecchia-Bekkum A, Worrall WPM, Stephens J, Brown M, Tuna S, York M, Shackley F, Kerrin D, Sargur R, Condliffe A, Tipu HN, Kuehn HS, Rosenzweig SD, Turro E, Tavare S, Thrasher AJ, Jodrell DI, Smith KGC, Boztug K, Milner JD, Thaventhiran JED
  タイトル
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
  雑誌
J Exp Med 216:1986-1998 (2019)
DOI:10.1084/jem.20190344
文献    
PMID:36884218 (STAT6)
  著者
Sharma M, Leung D, Momenilandi M, Jones LCW, Pacillo L, James AE, Murrell JR, Delafontaine S, Maimaris J, Vaseghi-Shanjani M, Del Bel KL, Lu HY, Chua GT, Di Cesare S, Fornes O, Liu Z, Di Matteo G, Fu MP, Amodio D, Tam IYS, Chan GSW, Sharma AA, Dalmann J, van der Lee R, Blanchard-Rohner G, Lin S, Philippot Q, Richmond PA, Lee JJ, Matthews A, Seear M, Turvey AK, Philips RL, Brown-Whitehorn TF, Gray CJ, Izumi K, Treat JR, Wood KH, Lack J, Khleborodova A, Niemela JE, Yang X, Liang R, Kui L, Wong CSM, Poon GWK, Hoischen A, van der Made CI, Yang J, Chan KW, Rosa Duque JSD, Lee PPW, Ho MHK, Chung BHY, Le HTM, Yang W, Rohani P, Fouladvand A, Rokni-Zadeh H, Changi-Ashtiani M, Miryounesi M, Puel A, Shahrooei M, Finocchi A, Rossi P, Rivalta B, Cifaldi C, Novelli A, Passarelli C, Arasi S, Bullens D, Sauer K, Claeys T, Biggs CM, Morris EC, Rosenzweig SD, O'Shea JJ, Wasserman WW, Bedford HM, van Karnebeek CDM, Palma P, Burns SO, Meyts I, Casanova JL, Lyons JJ, Parvaneh N, Nguyen ATV, Cancrini C, Heimall J, Ahmed H, McKinnon ML, Lau YL, Beziat V, Turvey SE
  タイトル
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.
  雑誌
J Exp Med 220:213926 (2023)
DOI:10.1084/jem.20221755
文献    
PMID:17088085 (TYK2)
  著者
Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, Kaneko H, Kondo N, Tsuge I, Yachie A, Sakiyama Y, Iwata T, Bessho F, Ohishi T, Joh K, Imai K, Kogawa K, Shinohara M, Fujieda M, Wakiguchi H, Pasic S, Abinun M, Ochs HD, Renner ED, Jansson A, Belohradsky BH, Metin A, Shimizu N, Mizutani S, Miyawaki T, Nonoyama S, Karasuyama H
  タイトル
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.
  雑誌
Immunity 25:745-55 (2006)
DOI:10.1016/j.immuni.2006.09.009
文献    
PMID:24589341 (PGM3)
  著者
Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, Jing H, Kim ES, Biancalana M, Wolfe LA, DiMaggio T, Matthews HF, Kranick SM, Stone KD, Holland SM, Reich DS, Hughes JD, Mehmet H, McElwee J, Freeman AF, Freeze HH, Su HC, Milner JD
  タイトル
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
  雑誌
J Allergy Clin Immunol 133:1400-9, 1409.e1-5 (2014)
DOI:10.1016/j.jaci.2014.02.013
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