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Hyper-IgE syndrome

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®: 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
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
Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media.
Wu J, Hong L, Chen TX
Curr Allergy Asthma Rep 2018 Aug 15;18(10):51. doi: 10.1007/s11882-018-0806-6. PMID: 30112673
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

Hyper-IgE and Carcinoma in CADINS Disease.
Pietzsch L, Körholz J, Boschann F, Sergon M, Dorjbal B, Yee D, Gilly V, Kämmerer E, Paul D, Kastl C, Laass MW, Berner R, Jacobsen EM, Roesler J, Aust D, Lee-Kirsch MA, Snow AL, Schuetz C
Front Immunol 2022;13:878989. Epub 2022 May 16 doi: 10.3389/fimmu.2022.878989. PMID: 35651609Free PMC Article
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

Therapy

The Child with Elevated IgE and Infection Susceptibility.
Freeman AF, Milner JD
Curr Allergy Asthma Rep 2020 Aug 24;20(11):65. doi: 10.1007/s11882-020-00964-y. PMID: 32830295
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
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
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
STAT1 and STAT3 mutations: important lessons for clinical immunologists.
Olbrich P, Freeman AF
Expert Rev Clin Immunol 2018 Dec;14(12):1029-1041. Epub 2018 Oct 25 doi: 10.1080/1744666X.2018.1531704. PMID: 30280610
Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.
Gernez Y, Freeman AF, Holland SM, Garabedian E, Patel NC, Puck JM, Sullivan KE, Akhter J, Secord E, Chen K, Buckley R, Haddad E, Ochs HD, Fuleihan R, Routes J, Muskat M, Lugar P, Mancini J, Cunningham-Rundles C
J Allergy Clin Immunol Pract 2018 May-Jun;6(3):996-1001. Epub 2017 Sep 19 doi: 10.1016/j.jaip.2017.06.041. PMID: 28939137Free PMC Article
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
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
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
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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