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combined immunodeficiency due to DOCK8 deficiency

Disease Summary
Associated Targets (4)
Tclin

1

Tchem

1

Tbio

1

Tdark

1


GARD Rare
Mondo Description Combined 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).
Uniprot Description A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement.
Mondo Term and Equivalent IDs
MONDO:0009478:  combined immunodeficiency due to DOCK8 deficiency
GARD:0002816: 
NCIT:C126343: 
Orphanet:217390: 
UMLS:C1968689: