Autosomal recessive hyperimmunoglobulin E syndrome

Preferred Label : Autosomal recessive hyperimmunoglobulin E syndrome;

ICD-11 definition : Autosomal recessive hyper IgE syndrome (AR-HIES) is a very rare severe primary immunodeficiency disorder characterized by the clinical triad of highly elevated serum IgE levels, recurring staphylococcal skin abscesses, and recurrent pneumonia. The clinical triad is shared with the more frequent autosomal dominant HIES syndrome (AD-HIES; ), but other features such as persistent cutaneous viral infections are unique to AR-HIES.;

ICD-11 synonym : Nonskeletal hyper IgE syndrome; Hyperimmunoglobulin E syndrome type 2; Autosomal recessive hyper-IgE syndrome; SCID - [Severe combined immunodeficiency] due to dedicator of DOCK8 deficiency; SCID due to dedicator of cytokinesis 8 protein deficiency; SCID - [Severe combined immunodeficiency] due to dedicator of cytokinesis 8 protein deficiency; SCID due to dedicator of DOCK8 deficiency; Autosomal recessive HIES - [Autosomal recessive hyperimmunoglobulin E] syndrome; Autosomal recessive HIES syndrome;

Details

Origin ID

1909398175;

UMLS CUI

C4722305;

Currated CISMeF NLP mapping
- Autosomal recessive hyper-IgE syndrome [ORDO Disease]
- Hyper-Immunoglobulin E syndrome, autosomal recessive [MeSH concept]
- Hyper-ige syndrome 2, autosomal recessive, with recurrent infections [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DOCK8 Deficiency [NCIt concept]
- Hyper-ige syndrome 2, autosomal recessive, with recurrent infections [OMIM Phenotype]
Validated automatic mappings to NTBT
- job syndrome [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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