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Hyper-IgE syndrome(HIES1)

MedGen UID:
854488
•Concept ID:
C3887645
•
Disease or Syndrome
Synonym: Hyper-IgE recurrent infection syndrome
SNOMED CT: HIE syndrome (50926003); Job syndrome (50926003); Quie-Hill syndrome (50926003); Buckley's syndrome (50926003); Job-Buckley syndrome (50926003); Hyperimmunoglobulin E syndrome (50926003); Job's syndrome (50926003); Recurring cold staphylococcal abscesses (50926003)
 
Monarch Initiative: MONDO:0018037
OMIM®: 102582; 147060
OMIM® Phenotypic series: PS147060
Orphanet: ORPHA331223

Definition

A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections. [from NCI]

Professional guidelines

PubMed

Dupilumab in the treatment of genodermatosis: A systematic review.
Wu PC, Dai YX, Li CL, Chen CC, Chang YT, Ma SH
J Dtsch Dermatol Ges 2023 Jan;21(1):7-17. Epub 2023 Jan 19 doi: 10.1111/ddg.14924. PMID: 36657040
DOCK8 deficiency: Insights into pathophysiology, clinical features and management.
Biggs CM, Keles S, Chatila TA
Clin Immunol 2017 Aug;181:75-82. Epub 2017 Jun 15 doi: 10.1016/j.clim.2017.06.003. PMID: 28625885Free PMC Article
Atopic dermatitis in children: clinical features, pathophysiology, and treatment.
Lyons JJ, Milner JD, Stone KD
Immunol Allergy Clin North Am 2015 Feb;35(1):161-83. Epub 2014 Nov 21 doi: 10.1016/j.iac.2014.09.008. PMID: 25459583Free PMC Article

Recent clinical studies

Etiology

STAT3 Hyper-IgE Syndrome-an Update and Unanswered Questions.
Tsilifis C, Freeman AF, Gennery AR
J Clin Immunol 2021 Jul;41(5):864-880. Epub 2021 May 1 doi: 10.1007/s10875-021-01051-1. PMID: 33932191Free PMC Article
Clinical Profile of Hyper-IgE Syndrome in India.
Saikia B, Rawat A, Minz RW, Suri D, Pandiarajan V, Jindal A, Sahu S, Karim A, Desai M, Taur PD, Pandrowala A, Gowri V, Madkaikar M, Dalvi A, Yadav RM, Lashkari HP, Raj R, Uppuluri R, Swaminathan VV, Bhattad S, Cyril G, Kumar H, Shukla A, Kalra M, Govindaraj G, Singh S
Front Immunol 2021;12:626593. Epub 2021 Feb 26 doi: 10.3389/fimmu.2021.626593. PMID: 33717144Free PMC Article
Hyper IgE syndromes: clinical and molecular characteristics.
Al-Shaikhly T, Ochs HD
Immunol Cell Biol 2019 Apr;97(4):368-379. Epub 2018 Nov 19 doi: 10.1111/imcb.12209. PMID: 30264496
Human hyper-IgE syndrome: singular or plural?
Zhang Q, Boisson B, Béziat V, Puel A, Casanova JL
Mamm Genome 2018 Aug;29(7-8):603-617. Epub 2018 Aug 9 doi: 10.1007/s00335-018-9767-2. PMID: 30094507Free PMC Article
Chronic Candidiasis in Children.
Green L, Dolen WK
Curr Allergy Asthma Rep 2017 May;17(5):31. doi: 10.1007/s11882-017-0699-9. PMID: 28429308

Diagnosis

Staphylococcus aureus and Hyper-IgE Syndrome.
Park B, Liu GY
Int J Mol Sci 2020 Dec 1;21(23) doi: 10.3390/ijms21239152. PMID: 33271763Free PMC Article
Approach to primary immunodeficiency.
Devonshire AL, Makhija M
Allergy Asthma Proc 2019 Nov 1;40(6):465-469. doi: 10.2500/aap.2019.40.4273. PMID: 31690396
Hyper IgE syndromes: clinical and molecular characteristics.
Al-Shaikhly T, Ochs HD
Immunol Cell Biol 2019 Apr;97(4):368-379. Epub 2018 Nov 19 doi: 10.1111/imcb.12209. PMID: 30264496
Human hyper-IgE syndrome: singular or plural?
Zhang Q, Boisson B, Béziat V, Puel A, Casanova JL
Mamm Genome 2018 Aug;29(7-8):603-617. Epub 2018 Aug 9 doi: 10.1007/s00335-018-9767-2. PMID: 30094507Free PMC Article
Hyper-IgE syndrome: dental implications.
Esposito L, Poletti L, Maspero C, Porro A, Pietrogrande MC, Pavesi P, Dellepiane RM, Farronato G
Oral Surg Oral Med Oral Pathol Oral Radiol 2012 Aug;114(2):147-53. doi: 10.1016/j.oooo.2012.04.005. PMID: 22769403

Therapy

Antibiotic use favors early-life allergies, intrauterine blood flow may influence respiratory allergies, and features of hyper-IgE syndrome.
Eigenmann P
Pediatr Allergy Immunol 2019 Jun;30(4):403-404. doi: 10.1111/pai.13062. PMID: 31144359
Lung disease in STAT3 hyper-IgE syndrome requires intense therapy.
Kröner C, Neumann J, Ley-Zaporozhan J, Hagl B, Meixner I, Spielberger BD, Dückers G, Belohradsky BH, Niehues T, Borte M, Rosenecker J, Kappler M, Nährig S, Reu S, Griese M, Renner ED
Allergy 2019 Sep;74(9):1691-1702. Epub 2019 Apr 4 doi: 10.1111/all.13753. PMID: 30793327
Dermatologic uses of omalizumabtitle.
Chia JC, Mydlarski PR
J Dermatolog Treat 2017 Jun;28(4):332-337. Epub 2016 Nov 7 doi: 10.1080/09546634.2016.1249819. PMID: 27759482
Primary Immunodeficiencies with Elevated IgE.
Mogensen TH
Int Rev Immunol 2016;35(1):39-56. Epub 2015 May 13 doi: 10.3109/08830185.2015.1027820. PMID: 25970001
IL-17 and infections.
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490

Prognosis

Single-cell multi-omics sequencing reveals the immunological disturbance underlying STAT3-V637M Hyper-IgE syndrome.
Zhong J, Qiu M, Meng Y, Wang P, Chen S, Wang L
Int Immunopharmacol 2023 Sep;122:110624. Epub 2023 Jul 21 doi: 10.1016/j.intimp.2023.110624. PMID: 37480751
A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis.
Kasap N, Celik V, Isik S, Cennetoglu P, Kiykim A, Eltan SB, Nain E, Ogulur I, Baser D, Akkelle E, Celiksoy MH, Kocamis B, Cipe FE, Yucelten AD, Karakoc-Aydiner E, Ozen A, Baris S
Clin Immunol 2021 Feb;223:108645. Epub 2020 Dec 7 doi: 10.1016/j.clim.2020.108645. PMID: 33301882
Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome.
Dmitrieva NI, Walts AD, Nguyen DP, Grubb A, Zhang X, Wang X, Ping X, Jin H, Yu Z, Yu ZX, Yang D, Schwartzbeck R, Dalgard CL, Kozel BA, Levin MD, Knutsen RH, Liu D, Milner JD, López DB, O'Connell MP, Lee CR, Myles IA, Hsu AP, Freeman AF, Holland SM, Chen G, Boehm M
J Clin Invest 2020 Aug 3;130(8):4167-4181. doi: 10.1172/JCI135490. PMID: 32369445Free PMC Article
Atopic dermatitis in children.
Arkwright PD, Stafford JC, Sharma V
J Allergy Clin Immunol Pract 2014 Jul-Aug;2(4):388-95. Epub 2014 Apr 18 doi: 10.1016/j.jaip.2014.01.016. PMID: 25017525
Dermatitis and the newborn rash of hyper-IgE syndrome.
Eberting CL, Davis J, Puck JM, Holland SM, Turner ML
Arch Dermatol 2004 Sep;140(9):1119-25. doi: 10.1001/archderm.140.9.1119. PMID: 15381553

Clinical prediction guides

STAT6 gain-of-function variant exacerbates multiple allergic symptoms.
Takeuchi I, Yanagi K, Takada S, Uchiyama T, Igarashi A, Motomura K, Hayashi Y, Nagano N, Matsuoka R, Sugiyama H, Yoshioka T, Saito H, Kawai T, Miyaji Y, Inuzuka Y, Matsubara Y, Ohya Y, Shimizu T, Matsumoto K, Arai K, Nomura I, Kaname T, Morita H
J Allergy Clin Immunol 2023 May;151(5):1402-1409.e6. Epub 2022 Dec 17 doi: 10.1016/j.jaci.2022.12.802. PMID: 36538978
Clinical Profile of Hyper-IgE Syndrome in India.
Saikia B, Rawat A, Minz RW, Suri D, Pandiarajan V, Jindal A, Sahu S, Karim A, Desai M, Taur PD, Pandrowala A, Gowri V, Madkaikar M, Dalvi A, Yadav RM, Lashkari HP, Raj R, Uppuluri R, Swaminathan VV, Bhattad S, Cyril G, Kumar H, Shukla A, Kalra M, Govindaraj G, Singh S
Front Immunol 2021;12:626593. Epub 2021 Feb 26 doi: 10.3389/fimmu.2021.626593. PMID: 33717144Free PMC Article
IL-17 and infections.
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490
DOCK8 deficiency.
Su HC, Jing H, Zhang Q
Ann N Y Acad Sci 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. PMID: 22236427
Hyper-IgE syndrome.
Minegishi Y
Curr Opin Immunol 2009 Oct;21(5):487-92. Epub 2009 Aug 28 doi: 10.1016/j.coi.2009.07.013. PMID: 19717292

Recent systematic reviews

A systematic review regarding the prevalence of malignancy in patients with the hyper-IgE syndrome.
Mohammadi T, Azizi G, Rafiemanesh H, Farahani P, Nirouei M, Tavakol M
Clin Exp Med 2023 Dec;23(8):4835-4859. Epub 2023 Nov 4 doi: 10.1007/s10238-023-01228-5. PMID: 37924455
Dupilumab in the treatment of genodermatosis: A systematic review.
Wu PC, Dai YX, Li CL, Chen CC, Chang YT, Ma SH
J Dtsch Dermatol Ges 2023 Jan;21(1):7-17. Epub 2023 Jan 19 doi: 10.1111/ddg.14924. PMID: 36657040
AA Amyloidosis Secondary to Primary Immune Deficiency: About 40 Cases Including 2 New French Cases and a Systematic Literature Review.
Delplanque M, Galicier L, Oziol E, Ducharme-Bénard S, Oksenhendler E, Buob D, Grateau G, Boutboul D, Georgin-Lavialle S
J Allergy Clin Immunol Pract 2021 Feb;9(2):745-752.e1. Epub 2020 Sep 30 doi: 10.1016/j.jaip.2020.09.023. PMID: 33007500

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