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Hyperimmunoglobulin E syndrome information


Hyper-IgE syndrome
Other namesHIES
The structure of the Immunoglobulin E (IgE) antibody.
SpecialtyImmunology Edit this on Wikidata

Hyperimmunoglobulinemia E syndrome[1] (HIES), of which the autosomal dominant form is called Job's syndrome[1] or Buckley syndrome,[1] is a heterogeneous group of immune disorders. Job's is also very rare at about 300 cases currently in the literature.

  1. ^ a b c Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.

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Hyperimmunoglobulin E syndrome

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(observational) study number 00-I-0159: Natural History, Management, and Genetics of the hyperimmunoglobulin E Recurrent Infection syndrome (HIES) - NCT00006150...

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Eosinophilia

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hypereosinophilic syndrome. Congenital disorders Hyperimmunoglobulin E syndrome, an immune disorder characterized by high levels of serum IgE Omenn syndrome Familial...

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DOCK8 deficiency

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immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characterized by elevated immunoglobulin E levels...

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List of syndromes

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Hyper-IgM syndrome type 2 Hyper-IgM syndrome type 3 Hyper-IgM syndrome type 4 Hyper-IgM syndrome type 5 Hyperimmunoglobulin D syndrome Hyperimmunoglobulin E syndrome...

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Cold abscess

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Alternatively, cold abscesses are typical in persons with hyperimmunoglobulin E syndrome, even when infected with an organism like Staphylococcus aureus...

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Pentasomy X

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case report, pentasomy X occurred alongside the similarly rare hyperimmunoglobulin E syndrome. Other possibly coincidental associations have included cerebral...

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Leonine facies

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nodular histiocytosis Mastocytosis Hyperimmunoglobulin E syndrome, also known as Job's syndrome Facies Leontiasis ossea "eMedicine - Leprosy : Article by...

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Immune disorder

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combined immunodeficiency (SCID) DiGeorge syndrome Hyperimmunoglobulin E syndrome (also known as Job's Syndrome) Common variable immunodeficiency (CVID):...

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Tyrosine kinase 2

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been associated with hyperimmunoglobulin E syndrome (HIES), a primary immunodeficiency characterized by elevated serum immunoglobulin E. TYK2 appears to play...

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Phagocyte bactericidal dysfunction

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diminished ability to fight bacterial infection. Examples include: Hyperimmunoglobulin E syndrome Chédiak–Higashi syndrome Chronic granulomatous disease v t e...

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Campomelic dysplasia

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Available from: https://www.ncbi.nlm.nih.gov/books/NBK1760/ S. Corbani; E. Chouery; B. Eid; et al. (2010). "Mild Campomelic Dysplasia: Report on a Case...

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Familial eosinophilia

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hypereosinophilic syndrome; d) absence of signs or symptoms of other hereditary eosinophilias (e.g. hyperimmunoglobulin E syndrome, Omenn syndrome), Wiskott–Aldrich...

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Dedicator of cytokinesis protein 8

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with a variant of combined immunodeficiency. This variant of Hyperimmunoglobulin E syndrome (HIES) was first described in 2004 and this clinical entity...

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STAT3 GOF

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loss-of-function mutations are responsible for hyperimmunoglobulin E syndrome, also called Job's syndrome, which is characterized by recurrent infections...

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STAT3

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infections. Loss-of-function mutations in the STAT3 gene result in hyperimmunoglobulin E syndrome, associated with recurrent infections as well as disordered...

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PGM3 deficiency

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impairments. Often patients present with similar manifestations to Hyperimmunoglobulin E syndrome (HIES), including severe atopic dermatitis, chronic sinusitis...

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Canakinumab

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tumor necrosis factor receptor associated periodic syndrome (TRAPS), hyperimmunoglobulin D syndrome (HIDS)/mevalonate kinase deficiency (MKD), and familial...

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Mevalonate kinase deficiency

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depends on the level of this deficiency with hyperimmunoglobulinemia D syndrome (first described as HIDS in 1984) being less severe, but more common, and...

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Immunodeficiency with hyperimmunoglobulin M

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Immunodeficiency with hyperimmunoglobulin M is a rare disorder characterized by recurrent infections, low or absent IgG, IgE, and IgA levels, and normal...

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