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Combined immunodeficiency due to DOCK8 deficiency
rareCombined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).
- Identifiers
- MONDO:0009478 OMIM:243700Orphanet:217390
- Causal genes
- DOCK8
- Part of
- Hyper-IgE syndrome
- Also known as
- AR hyperimmunoglobulin E syndrome · AR-HIES · autosomal recessive hyper IgE syndrome · Cid due to DOCK8 deficiency · combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
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