Hyper-ige syndrome 1, autosomal dominant, with recurrent infections

Preferred Label : Hyper-ige syndrome 1, autosomal dominant, with recurrent infections;

Symbol : HIES1;

CISMeF acronym : HIES1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hies, autosomal dominant; Job syndrome; Hyper-ige syndrome, autosomal dominant; Hyper-ige recurrent infection syndrome 1, autosomal dominant;

Description : Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the signal transducer and activator of transcription-3 gene (STAT3, 102582.0001);

Laboratory abnormalities : Increased serum IgE; Eosinophilia;

Prefixed ID : #147060;

Détails

Origin ID

147060;

UMLS CUI

C3887645;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant hyperimmunoglobulin E syndrome [ICD-11 More detail]
- Hyper-Immunoglobulin E syndrome, autosomal dominant [MeSH concept]
- hyper IgE recurrent infection syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant hyper-IgE syndrome [ORDO Disease]
- Hyper IgE syndrome [MedDRA Preferred Term]
- Hyper-Ige recurrent infection syndrome, autosomal dominant [MeSH concept]
- Hyper-Ige recurrent infection syndrome, autosomal dominant [MeSH Supplementary Concept]
- Hyperimmunoglobulin E [IgE] syndrome [ICD-10 Sub-category]
- Hyperimmunoglobulin E syndromes [ICD-11 Sub-sub category]
- Job's syndrome [MedDRA LLT]
- Job's syndrome (disorder) [SNOMED CT concept]
- STAT3 Deficiency [NCIt concept]
- hyperimmunoglobulin e syndrome [SNOMED Notion]
- job syndrome [MeSH Descriptor]
- job syndrome [MeSH concept]
- job's syndrome [SNOMED Notion]
DO Cross reference
- hyper IgE recurrent infection syndrome 1 [DO Concept]
Genes related to phenotype
- Signal transducer and activator of transcription 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Coarse facial features [HPO term]
- Craniosynostosis [HPO term]
- Cutaneous abscess [HPO term]
- Eczematoid dermatitis [HPO term]
- Eosinophilia [HPO term]
- Erythema [HPO term]
- Frontal bossing [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Increased circulating IgE level [HPO term]
- Infantile onset [HPO term]
- Joint hypermobility [HPO term]
- Occasional craniosynostosis [HPO term]
- Osteopenia [HPO term]
- Persistence of primary teeth [HPO term]
- Prominent forehead [HPO term]
- Recurrent Staphylococcus aureus infections [HPO term]
- Recurrent fractures [HPO term]
- Recurrent fungal infections [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinopulmonary infections [HPO term]
- Scoliosis [HPO term]
- Skin rash [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Autosomal dominant hyper-IgE syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant hyper-IgE syndrome [ORDO Disease]
- Buckley's syndrome [MedDRA LLT]
- Hyper IgE syndrome [MedDRA Preferred Term]
- Hyper-IgE syndrome [ORDO Disease]
- Hyper-Ige recurrent infection syndrome, autosomal dominant [MeSH concept]
- Hyper-Ige recurrent infection syndrome, autosomal dominant [MeSH Supplementary Concept]
- Hyperimmunoglobulin E Syndrome [NCIt concept]
- Hyperimmunoglobulin E [IgE] syndrome [ICD-10 Sub-category]
- Job's syndrome [MedDRA LLT]
- Job's syndrome (disorder) [SNOMED CT concept]
- hyperimmunoglobulin E syndrome [Disease (Nov.)]
- job syndrome [MeSH Descriptor]
Validated automatic mappings to NTBT
- Hyperimmunoglobulin E Syndrome [NCIt concept]
- hyperimmunoglobulin E syndrome [Disease (Nov.)]

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