Hyperimmunoglobulin E syndrome

Job's syndromeHyper-IgE syndromeJob syndromeHyper IgEHyper IgE syndromeHyper IgE syndromeshyper-IgEHyperimmunoglobulinemia ERetention of primary teeth
Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome or Buckley syndrome, is a heterogeneous group of immune disorders.wikipedia
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STAT3

signal transducer and activator of transcription 3signal-transducer and activator of transcription 3STAT
Genetic testing is available for STAT3 (Job's Syndrome), DOCK8 (DOCK8 Immunodeficiency or DIDS), PGM3 (PGM3 deficiency), SPINK5 (Netherton Syndrome - NTS), and TYK2 genetic defects.
Loss-of-function mutations in the STAT3 gene result in Hyperimmunoglobulin E syndrome, associated with recurrent infections as well as disordered bone and tooth development.

Immunoglobulin E

IgEIgE antibodiesImmunoglobulin E (IgE)
It is characterized by recurrent "cold" staphylococcal infections (due to impaired recruitment of neutrophils), unusual eczema-like skin rashes, severe lung infections that result in pneumatoceles (balloon-like lesions that may be filled with air or pus or scar tissue) and very high concentrations of the serum antibody IgE.
Atopic individuals can have up to ten times the normal level of IgE in their blood (as do sufferers of hyper-IgE syndrome).

PGM3 deficiency

Genetic testing is available for STAT3 (Job's Syndrome), DOCK8 (DOCK8 Immunodeficiency or DIDS), PGM3 (PGM3 deficiency), SPINK5 (Netherton Syndrome - NTS), and TYK2 genetic defects.
Often patients present with similar manifestations to Hyperimmunoglobulin E syndrome (HIES), including severe atopic dermatitis, chronic sinusitis or otitis, cutaneous vasculitis, severe pulmonary infections and pneumonia, and very high concentrations of the serum antibody IgE levels.

DOCK8 deficiency

DOCK8 ImmunodeficiencyDOCK8 Immunodeficiency Syndrome
Genetic testing is available for STAT3 (Job's Syndrome), DOCK8 (DOCK8 Immunodeficiency or DIDS), PGM3 (PGM3 deficiency), SPINK5 (Netherton Syndrome - NTS), and TYK2 genetic defects.
DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characterized by elevated immunoglobulin E levels, eosinophilia, and recurrent infections with staphylococcus and viruses.

Pneumatocele

It is characterized by recurrent "cold" staphylococcal infections (due to impaired recruitment of neutrophils), unusual eczema-like skin rashes, severe lung infections that result in pneumatoceles (balloon-like lesions that may be filled with air or pus or scar tissue) and very high concentrations of the serum antibody IgE.
Differential diagnoses – other conditions that could cause similar symptoms as pneumatocele include lung cancer, tuberculosis, and a lung abscess in the setting of hyper IgE syndrome (aka Job's syndrome) or on its own, often caused by Staphylococcus aureus infection during cystic fibrosis.

Dock8

DOCK8'' geneDOCK8/ZIR3
Genetic testing is available for STAT3 (Job's Syndrome), DOCK8 (DOCK8 Immunodeficiency or DIDS), PGM3 (PGM3 deficiency), SPINK5 (Netherton Syndrome - NTS), and TYK2 genetic defects.
This variant of Hyperimmunoglobulin E syndrome (HIES) was first described in 2004 and this clinical entity is known to be due to having biallelic germline mutations in the DOCK8 gene.

Eosinophilia

pulmonary eosinophiliaEosinophilicabnormally high level of eosinophils
Eosinophilia is also a common finding with greater than 90% of patients having eosinophil elevations greater than two standard deviations above the normal mean.

Tyrosine kinase 2

TYK2TYK
Genetic testing is available for STAT3 (Job's Syndrome), DOCK8 (DOCK8 Immunodeficiency or DIDS), PGM3 (PGM3 deficiency), SPINK5 (Netherton Syndrome - NTS), and TYK2 genetic defects.
A mutation in this gene has been associated with hyperimmunoglobulin E syndrome (HIES) - a primary immunodeficiency characterized by elevated serum immunoglobulin E.

List of skin conditions

List of cutaneous conditionsList of skin diseasesskin conditions

Infection

infectious diseaseinfectious diseasesinfections
It is characterized by recurrent "cold" staphylococcal infections (due to impaired recruitment of neutrophils), unusual eczema-like skin rashes, severe lung infections that result in pneumatoceles (balloon-like lesions that may be filled with air or pus or scar tissue) and very high concentrations of the serum antibody IgE.

Dermatitis

eczemaallergic dermatitischronic eczema
It is characterized by recurrent "cold" staphylococcal infections (due to impaired recruitment of neutrophils), unusual eczema-like skin rashes, severe lung infections that result in pneumatoceles (balloon-like lesions that may be filled with air or pus or scar tissue) and very high concentrations of the serum antibody IgE.

Lung

lungspulmonaryright lung
It is characterized by recurrent "cold" staphylococcal infections (due to impaired recruitment of neutrophils), unusual eczema-like skin rashes, severe lung infections that result in pneumatoceles (balloon-like lesions that may be filled with air or pus or scar tissue) and very high concentrations of the serum antibody IgE.

Chemotaxis

chemotacticchemoattractantchemotactic factor
Abnormal neutrophil chemotaxis due to decreased production of interferon gamma by T lymphocytes is thought to cause the disease.

Interferon gamma

IFN-γinterferon-gammaIFNγ
Abnormal neutrophil chemotaxis due to decreased production of interferon gamma by T lymphocytes is thought to cause the disease.

Dominance (genetics)

autosomal recessiverecessiveautosomal dominant
Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome or Buckley syndrome, is a heterogeneous group of immune disorders.

Phosphoacetylglucosamine mutase

PGM3
Genetic testing is available for STAT3 (Job's Syndrome), DOCK8 (DOCK8 Immunodeficiency or DIDS), PGM3 (PGM3 deficiency), SPINK5 (Netherton Syndrome - NTS), and TYK2 genetic defects.

Congenital disorder of glycosylation

congenital disorders of glycosylationcarbohydrate-deficient glycoprotein syndromeCDG syndrome

LEKTI

SPINK5
Genetic testing is available for STAT3 (Job's Syndrome), DOCK8 (DOCK8 Immunodeficiency or DIDS), PGM3 (PGM3 deficiency), SPINK5 (Netherton Syndrome - NTS), and TYK2 genetic defects.

Netherton syndrome

Netherton's syndromeIchthyosis, Netherton syndrome
Genetic testing is available for STAT3 (Job's Syndrome), DOCK8 (DOCK8 Immunodeficiency or DIDS), PGM3 (PGM3 deficiency), SPINK5 (Netherton Syndrome - NTS), and TYK2 genetic defects.

Prognathism

prognathousmandibular prognathismprognathic

Scoliosis

Antibiotic

antibioticsantibacterialtopical antibiotic
Most patients with hyper IgE syndrome are treated with long-term antibiotic therapy to prevent staphylococcal infections.