KEGG   DISEASE: Hyper-IgE syndrome
Entry
H01968                      Disease                                
Name
Hyper-IgE syndrome;
Job syndrome;
Buckley syndrome
  Supergrp
Other well-defined immunodeficiency syndromes [DS:H00107]
Primary immunodeficiency disease [DS:H01725]
Description
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.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Primary immunodeficiency
   H01968  Hyper-IgE syndrome
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H01968  Hyper-IgE syndrome
Gene
(HIES1) STAT3 [HSA:6774] [KO:K04692]
(HIES2) DOCK8 [HSA:81704] [KO:K21852]
(HIES3) ZNF341 [HSA:84905] [KO:K24852]
(HIES4) IL6ST [HSA:3572] [KO:K05060]
(HIES5) IL6R [HSA:3570] [KO:K05055]
(HIES with mycobacteriosis) TYK2 [HSA:7297] [KO:K11219]
(HIES and cognitive impairment) PGM3 [HSA:5238] [KO:K01836]
Other DBs
ICD-11: 4A01.34
ICD-10: D82.4
MeSH: D007589
OMIM: 147060 243700 618282 618523 611521 615816 618944
Reference
  Authors
Minegishi Y
  Title
Hyper-IgE syndrome.
  Journal
Curr Opin Immunol 21:487-92 (2009)
DOI:10.1016/j.coi.2009.07.013
Reference
  Authors
Hashemi H, Mohebbi M, Mehravaran S, Mazloumi M, Jahanbani-Ardakani H, Abtahi SH
  Title
Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities.
  Journal
J Res Med Sci 22:53 (2017)
DOI:10.4103/jrms.JRMS_1050_16
Reference
  Authors
Grimbacher B, Holland SM, Puck JM
  Title
Hyper-IgE syndromes.
  Journal
Immunol Rev 203:244-50 (2005)
DOI:10.1111/j.0105-2896.2005.00228.x
Reference
  Authors
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
  Title
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
  Journal
J Allergy Clin Immunol 133:1400-9, 1409.e1-5 (2014)
DOI:10.1016/j.jaci.2014.02.013
Reference
  Authors
Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, Holland SM, Su HC
  Title
Combined immunodeficiency associated with DOCK8 mutations.
  Journal
N Engl J Med 361:2046-55 (2009)
DOI:10.1056/NEJMoa0905506
Reference
  Authors
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
  Title
Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.
  Journal
Immunity 25:745-55 (2006)
DOI:10.1016/j.immuni.2006.09.009
Reference
  Authors
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
  Title
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
  Journal
Sci Immunol 3:3/24/eaat4956 (2018)
DOI:10.1126/sciimmunol.aat4956
Reference
  Authors
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
  Title
A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
  Journal
J Exp Med 214:2547-2562 (2017)
DOI:10.1084/jem.20161810
Reference
  Authors
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
  Title
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
  Journal
J Exp Med 216:1986-1998 (2019)
DOI:10.1084/jem.20190344

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