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Hyperimmunoglobulin syndrome

MedGen UID:: 272730
•Concept ID:: C1334069
•: Disease or Syndrome

Synonyms:	Hyperimmunoglobulin Syndrome; hyperimmunoglobulin syndrome

Monarch Initiative:	MONDO:0002468

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHyperimmunoglobulin syndrome

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Hyperimmunoglobulin syndrome
        Hyper-IgE syndrome
        CADINS disease
        Hyper-IgE recurrent infection syndrome 1, autosomal dominant
        Immunodeficiency 23
        Netherton syndrome
        Severe dermatitis-multiple allergies-metabolic wasting syndrome
        STAT3 Deficiency
        Hyperimmunoglobulin M syndrome
        Hyper-IgM syndrome type 1
        Hyper-IgM syndrome type 2
        Hyper-IgM syndrome type 3

Professional guidelines

PubMed

Systematic literature review of efficacy/effectiveness and safety of current therapies for the treatment of cryopyrin-associated periodic syndrome, hyperimmunoglobulin D syndrome and tumour necrosis factor receptor-associated periodic syndrome.

Kuemmerle-Deschner JB, Gautam R, George AT, Raza S, Lomax KG, Hur P
RMD Open 2020 Jul;6(2) doi: 10.1136/rmdopen-2020-001227. PMID: 32723831 Free PMC Article

See all (1)

Recent clinical studies

Etiology

Flow-cytometry as an auxiliary in the diagnosis of primary humoral immunodeficiencies.

Santos-Argumedo L, Berrón-Ruiz L, López-Herrera G, Moreno-Corona NC
Gac Med Mex 2020;156(3):194-200. doi: 10.24875/GMM.M20000386. PMID: 32538998

Hyperimmunoglobulin E syndromes in pediatrics.

Zhang Q, Su HC
Curr Opin Pediatr 2011 Dec;23(6):653-8. doi: 10.1097/MOP.0b013e32834c7f65. PMID: 21970826 Free PMC Article

Periodic Fever syndromes.

Jacobs Z, Ciaccio CE
Curr Allergy Asthma Rep 2010 Nov;10(6):398-404. doi: 10.1007/s11882-010-0141-z. PMID: 20734171

Hyperimmunoglobulin D syndrome in childhood.

van der Hilst JC, Frenkel J
Curr Rheumatol Rep 2010 Apr;12(2):101-7. doi: 10.1007/s11926-010-0086-1. PMID: 20425018

Childhood bullous pemphigoid in association with hyperimmunoglobulin E syndrome.

Erbagci Z
Pediatr Dermatol 2008 Jan-Feb;25(1):28-33. doi: 10.1111/j.1525-1470.2007.00577.x. PMID: 18304149

See all (95)

Diagnosis

Long-term efficacy of canakinumab in hyperimmunoglobulin D syndrome.

Ozdemir Isik O, Karadag DT, Tekeoglu S, Yazici A, Cefle K, Cefle A
Int J Rheum Dis 2024 Jan;27(1):e14857. Epub 2023 Aug 14 doi: 10.1111/1756-185X.14857. PMID: 37578023

An Update on Syndromes with a Hyper-IgE Phenotype.

Bergerson JRE, Freeman AF
Immunol Allergy Clin North Am 2019 Feb;39(1):49-61. doi: 10.1016/j.iac.2018.08.007. PMID: 30466772

Disorders of neutrophil function: an overview.

Dinauer MC
Methods Mol Biol 2014;1124:501-15. doi: 10.1007/978-1-62703-845-4_30. PMID: 24504971

Disorders of neutrophil function: an overview.

Dinauer MC
Methods Mol Biol 2007;412:489-504. doi: 10.1007/978-1-59745-467-4_30. PMID: 18453130

Hyperimmunoglobulin E syndrome.

Salaria M, Poddar B, Parmar V
Indian J Pediatr 2001 Jan;68(1):87-90. doi: 10.1007/BF02728870. PMID: 11237244

See all (191)

Therapy

Long-term efficacy of canakinumab in hyperimmunoglobulin D syndrome.

Ozdemir Isik O, Karadag DT, Tekeoglu S, Yazici A, Cefle K, Cefle A
Int J Rheum Dis 2024 Jan;27(1):e14857. Epub 2023 Aug 14 doi: 10.1111/1756-185X.14857. PMID: 37578023

Convalescent plasma with a high level of virus-specific antibody effectively neutralizes SARS-CoV-2 variants of concern.

Li M, Beck EJ, Laeyendecker O, Eby Y, Tobian AAR, Caturegli P, Wouters C, Chiklis GR, Block W, McKie RO, Joyner MJ, Wiltshire TD, Dietz AB, Gniadek TJ, Shapiro AJ, Yarava A, Lane K, Hanley DF, Bloch EM, Shoham S, Cachay ER, Meisenberg BR, Huaman MA, Fukuta Y, Patel B, Heath SL, Levine AC, Paxton JH, Anjan S, Gerber JM, Gebo KA, Casadevall A, Pekosz A, Sullivan DJ
Blood Adv 2022 Jun 28;6(12):3678-3683. doi: 10.1182/bloodadvances.2022007410. PMID: 35443020 Free PMC Article

Small Molecules and Antibodies for Zika Therapy.

Xie X, Zou J, Shan C, Shi PY
J Infect Dis 2017 Dec 16;216(suppl_10):S945-S950. doi: 10.1093/infdis/jix406. PMID: 29267911 Free PMC Article

Hyperimmunoglobulin D syndrome in childhood.

van der Hilst JC, Frenkel J
Curr Rheumatol Rep 2010 Apr;12(2):101-7. doi: 10.1007/s11926-010-0086-1. PMID: 20425018

Childhood bullous pemphigoid in association with hyperimmunoglobulin E syndrome.

Erbagci Z
Pediatr Dermatol 2008 Jan-Feb;25(1):28-33. doi: 10.1111/j.1525-1470.2007.00577.x. PMID: 18304149

See all (90)

Prognosis

Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features.

García-García A, Buendia Arellano M, Deyà-Martínez À, Lozano Blasco J, Serrano M, Van Den Rym A, García-Solis B, Esteve-Solé A, Yiyi L, Vlagea A, Solanich X, Fisher MR, Lyons JJ, de Diego RP, Alsina L
Pediatr Allergy Immunol 2021 Apr;32(3):566-575. Epub 2020 Nov 6 doi: 10.1111/pai.13398. PMID: 33098103

Update on the epidemiology and disease outcome of Familial Mediterranean fever.

Özen S
Best Pract Res Clin Rheumatol 2018 Apr;32(2):254-260. Epub 2018 Sep 29 doi: 10.1016/j.berh.2018.09.003. PMID: 30527430

Hyperimmunoglobulin E syndromes in pediatrics.

Zhang Q, Su HC
Curr Opin Pediatr 2011 Dec;23(6):653-8. doi: 10.1097/MOP.0b013e32834c7f65. PMID: 21970826 Free PMC Article

Childhood bullous pemphigoid in association with hyperimmunoglobulin E syndrome.

Erbagci Z
Pediatr Dermatol 2008 Jan-Feb;25(1):28-33. doi: 10.1111/j.1525-1470.2007.00577.x. PMID: 18304149

Hyperimmunoglobulin E syndrome.

Salaria M, Poddar B, Parmar V
Indian J Pediatr 2001 Jan;68(1):87-90. doi: 10.1007/BF02728870. PMID: 11237244

See all (65)

Clinical prediction guides

Long-term efficacy of canakinumab in hyperimmunoglobulin D syndrome.

Ozdemir Isik O, Karadag DT, Tekeoglu S, Yazici A, Cefle K, Cefle A
Int J Rheum Dis 2024 Jan;27(1):e14857. Epub 2023 Aug 14 doi: 10.1111/1756-185X.14857. PMID: 37578023

Convalescent plasma with a high level of virus-specific antibody effectively neutralizes SARS-CoV-2 variants of concern.

Targeted gene editing restores regulated CD40L function in X-linked hyper-IgM syndrome.

Hubbard N, Hagin D, Sommer K, Song Y, Khan I, Clough C, Ochs HD, Rawlings DJ, Scharenberg AM, Torgerson TR
Blood 2016 May 26;127(21):2513-22. Epub 2016 Feb 22 doi: 10.1182/blood-2015-11-683235. PMID: 26903548

Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects.

Durandy A, Revy P, Imai K, Fischer A
Immunol Rev 2005 Feb;203:67-79. doi: 10.1111/j.0105-2896.2005.00222.x. PMID: 15661022

Craniosynostosis in hyper-IgE-syndrome.

Höger PH, Boltshauser E, Hitzig WH
Eur J Pediatr 1985 Nov;144(4):414-7. doi: 10.1007/BF00441793. PMID: 4076261

See all (59)

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

Kuemmerle-Deschner JB, Gautam R, George AT, Raza S, Lomax KG, Hur P
RMD Open 2020 Jul;6(2) doi: 10.1136/rmdopen-2020-001227. PMID: 32723831 Free PMC Article

See all (2)

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Hyperimmunoglobulin syndrome

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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