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Combined Immunodeficiency Due To Dock8 Deficiency (MONDO:0009478)

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).

Overview

Category

immune system disorder

hematologic disorder

Ontology ID

MONDO:0009478

Internal:10704

Synonyms

Cid due to DOCK8 deficiency

DOCK8 immunodeficiency syndrome

combined immunodeficiency due to DOCK8 deficiency

combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency

dedicator of cytokinesis 8 deficiency

AR hyperimmunoglobulin E syndrome

AR-HIES

DOCK8 deficiency

HIES autosomal recessive

HIES, autosomal recessive

autosomal recessive hyper IgE syndrome

hyper Ig E syndrome, autosomal recessive

hyper-IgE recurrent infection syndrome, autosomal recessive

hyper-IgE syndrome, autosomal recessive

hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive

Mapped terms

DOID:0080594

GARD:0002816

MEDGEN:1648410

NCIT:C126343

OMIM:243700

Orphanet:217390

UMLS:C4722305

icd11.foundation:136043326

Child terms

Unknown children.

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