Hyper-ige syndrome 2, autosomal recessive, with recurrent infections

Preferred Label : Hyper-ige syndrome 2, autosomal recessive, with recurrent infections;

Symbol : HIES2;

CISMeF acronym : HIES2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hies, autosomal recessive; Hyper-ige syndrome, autosomal recessive; Hyper-ige recurrent infection syndrome 2, autosomal recessive;

Description : Autosomal dominant hyper-IgE recurrent infection syndrome (147060) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999). The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004). See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dedicator of cytokinesis 8 gene (DOCK8, 611432.0001);

Neoplasia : Increased susceptibility to carcinomas, especially cancers related to cutaneous viral infections;

Laboratory abnormalities : Decreased T cells; Eosinophilia; Decreased serum IgM; Increased serum IgE; Decreased natural killer cells; Decreased B cells;

Prefixed ID : #243700;

Details

Origin ID

243700;

UMLS CUI

C4722305;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency due to DOCK8 deficiency [ORDO Disease]
- job syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Autosomal recessive hyper-IgE syndrome [ORDO Disease]
- Autosomal recessive hyperimmunoglobulin E syndrome [ICD-11 More detail]
- Hyper-Immunoglobulin E syndrome, autosomal recessive [MeSH concept]
- hyper IgE recurrent infection syndrome 2 [DO Concept]
DO Cross reference
- hyper IgE recurrent infection syndrome 2 [DO Concept]
Genes related to phenotype
- Dedicator of cytokinesis 8 [OMIM gene]
HPO term(s)
- Asthma [HPO term]
- Atopic dermatitis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Cerebral vasculitis [HPO term]
- Decreased circulating total IgM [HPO term]
- Decreased proportion of CD4-positive helper T cells [HPO term]
- Disseminated molluscum contagiosum [HPO term]
- Early death [HPO term]
- Eczema [HPO term]
- Eosinophilia [HPO term]
- Eosinophilic infiltration of the esophagus [HPO term]
- Food allergy [HPO term]
- Growth delay [HPO term]
- Hemiplegia [HPO term]
- Increased circulating IgE level [HPO term]
- Increased circulating IgG level [HPO term]
- Infantile onset [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent fungal infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent sinopulmonary infections [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent viral infections [HPO term]
- Reduced natural killer cell count [HPO term]
- Squamous cell carcinoma [HPO term]
- Subarachnoid hemorrhage [HPO term]
ORDO concept(s)
- Autosomal recessive hyper-IgE syndrome [ORDO Disease]
- Combined immunodeficiency due to DOCK8 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive hyper-IgE syndrome [ORDO Disease]
- Autosomal recessive hyperimmunoglobulin E syndrome [ICD-11 More detail]
- DOCK8 Deficiency [NCIt concept]
- Hyper-Immunoglobulin E syndrome, autosomal recessive [MeSH concept]

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