| H01968 | |
| H番号 | H01968 |
| 名称 | 高 IgE 症候群; Job 症候群; Buckley 症候群 |
| 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 |
| ネットワーク | nt06518(H01968) 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] (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 4A01.34 ICD-10: D82.4 MeSH: D007589 OMIM: 147060 243700 618282 618523 611521 615816 618944 |
| 文献 | PMID:19717292 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 PMID:28567072 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 PMID:15661034 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 PMID:24589341 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 PMID:19776401 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 PMID:17088085 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 PMID:29907691 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 PMID:28747427 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 PMID:31235509 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 |