Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Measurement of immunoglobulin E antibody to omega-5 gliadin (procedure) |
Is a |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
|
A rare genetic epidermal disorder characterized by congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
2 |
Laboratory test that measures the presence or concentration of immunoglobulin E (IgE) specific to an allergen of interest and is widely used in the diagnosis of allergic diseases. The test is based upon interactions between antigens and antigen-specific antibodies. The assay is often incorrectly referred to as 'radioallergosorbent test' or 'RAST' because radioallergosorbent tests were the earliest technique to be used extensively. |
Is a |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
|
A rare hyper-IgE syndrome characterised by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteraemia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhoea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition. |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
2 |
A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections. |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
3 |
Hyperimmunoglobulin E syndrome |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
2 |
Autosomal dominant combined immunodeficiency due to ERBIN deficiency |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
2 |
Autosomal dominant combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder) |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
2 |
A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles. |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
2 |
Autosomal recessive combined immunodeficiency due to interleukin 6 receptor deficiency (disorder) |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
1 |
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
2 |
Autosomal recessive combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder) |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
1 |
Netherton syndrome |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
4 |
A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures. |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Some |
3 |