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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
        DOCK8 Deficiency
        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

Dosage Considerations for Canakinumab in Children With Periodic Fever Syndromes.

Zhuang L, Chen J, Yu J, Marathe A, Sahajwalla C, Borigini M, Maynard J, Burckart GJ, Wang Y
Clin Pharmacol Ther 2019 Sep;106(3):557-567. Epub 2019 Jan 28 doi: 10.1002/cpt.1302. PMID: 30447083

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

Periodic fever syndromes.

Scholl PR
Curr Opin Pediatr 2000 Dec;12(6):563-6. doi: 10.1097/00008480-200012000-00009. PMID: 11106276

The hyperimmunoglobulin E recurrent-infection (Job's) syndrome. A review of the NIH experience and the literature.

Donabedian H, Gallin JI
Medicine (Baltimore) 1983 Jul;62(4):195-208. doi: 10.1097/00005792-198307000-00001. PMID: 6348470

See all (92)

Diagnosis

Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.

Costagliola G, Consolini R
Clin Exp Immunol 2021 Sep;205(3):288-305. Epub 2021 Jun 20 doi: 10.1111/cei.13620. PMID: 34008169 Free PMC Article

Delayed diagnosis of hyperimmunoglobulin E syndrome with STAT3 mutation in mainland China: a case report and literature review.

Fang J, Yang Q, Pi B
J Int Med Res 2021 Apr;49(4):3000605211008073. doi: 10.1177/03000605211008073. PMID: 33900869 Free PMC Article

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

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

Phagocyte defects.

White CJ, Gallin JI
Clin Immunol Immunopathol 1986 Jul;40(1):50-61. doi: 10.1016/0090-1229(86)90068-1. PMID: 2941193

See all (186)

Therapy

Current Therapeutic Options for the Main Monogenic Autoinflammatory Diseases and PFAPA Syndrome: Evidence-Based Approach and Proposal of a Practical Guide.

Soriano A, Soriano M, Espinosa G, Manna R, Emmi G, Cantarini L, Hernández-Rodríguez J
Front Immunol 2020;11:865. Epub 2020 Jun 3 doi: 10.3389/fimmu.2020.00865. PMID: 32655539 Free PMC Article

Canakinumab for the treatment of hyperimmunoglobulin D syndrome.

Sánchez-Manubens J, Iglesias E, Anton J
Expert Rev Clin Immunol 2019 Mar;15(3):215-220. Epub 2019 Jan 26 doi: 10.1080/1744666X.2019.1571410. PMID: 30652926

Dosage Considerations for Canakinumab in Children With Periodic Fever Syndromes.

Zhuang L, Chen J, Yu J, Marathe A, Sahajwalla C, Borigini M, Maynard J, Burckart GJ, Wang Y
Clin Pharmacol Ther 2019 Sep;106(3):557-567. Epub 2019 Jan 28 doi: 10.1002/cpt.1302. PMID: 30447083

Autoinflammatory diseases in pediatrics.

Hausmann JS, Dedeoglu F
Dermatol Clin 2013 Jul;31(3):481-94. Epub 2013 Jun 2 doi: 10.1016/j.det.2013.04.003. PMID: 23827250

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

See all (88)

Prognosis

Recurrent macrophage activation syndrome due to hyperimmunoglobulin D syndrome: a case-based review.

Gezgin Yıldırım D, Yıldız Yıldırım Ç, Karaçayır N, Esmeray Şenol P, Sunar Yayla EN, Bakkaloğlu SA
Clin Rheumatol 2023 Jan;42(1):277-283. Epub 2022 Sep 23 doi: 10.1007/s10067-022-06384-9. PMID: 36149537

Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.

Costagliola G, Consolini R
Clin Exp Immunol 2021 Sep;205(3):288-305. Epub 2021 Jun 20 doi: 10.1111/cei.13620. PMID: 34008169 Free PMC Article

Hyperimmunoglobulin E syndrome.

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

Phagocyte defects.

White CJ, Gallin JI
Clin Immunol Immunopathol 1986 Jul;40(1):50-61. doi: 10.1016/0090-1229(86)90068-1. PMID: 2941193

The hyperimmunoglobulin E recurrent-infection (Job's) syndrome. A review of the NIH experience and the literature.

Donabedian H, Gallin JI
Medicine (Baltimore) 1983 Jul;62(4):195-208. doi: 10.1097/00005792-198307000-00001. PMID: 6348470

See all (64)

Clinical prediction guides

Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.

Costagliola G, Consolini R
Clin Exp Immunol 2021 Sep;205(3):288-305. Epub 2021 Jun 20 doi: 10.1111/cei.13620. PMID: 34008169 Free PMC Article

Canakinumab for the treatment of hyperimmunoglobulin D syndrome.

Sánchez-Manubens J, Iglesias E, Anton J
Expert Rev Clin Immunol 2019 Mar;15(3):215-220. Epub 2019 Jan 26 doi: 10.1080/1744666X.2019.1571410. PMID: 30652926

The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiency.

Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, Heropolitanska-Pliszka E, Breborowicz A, Gerreth K
Orphanet J Rare Dis 2011 Nov 15;6:76. doi: 10.1186/1750-1172-6-76. PMID: 22085750 Free PMC Article

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

Janus kinases in immune cell signaling.

Ghoreschi K, Laurence A, O'Shea JJ
Immunol Rev 2009 Mar;228(1):273-87. doi: 10.1111/j.1600-065X.2008.00754.x. PMID: 19290934 Free PMC Article

See all (56)

Recent systematic reviews

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)

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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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Reviews

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