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GTR Home > Conditions/Phenotypes > Combined immunodeficiency due to DOCK8 deficiency

Combined immunodeficiency due to DOCK8 deficiency

Synonyms
DOCK8 Deficiency; HIES autosomal recessive; HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE; HYPER-IgE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS; Hyper-IgE recurrent infection syndrome, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Hyper-IgE syndrome-2 with recurrent infections (HIES2) is an autosomal recessive immunologic disorder characterized by recurrent staphylococcal infections of the skin and respiratory tract, eczema, elevated serum immunoglobulin E, and hypereosinophilia. It is distinguished from autosomal dominant HIES1 (147060) by the lack of connective tissue and skeletal involvement (Renner et al., 2004). For a discussion of genetic heterogeneity of hyper-IgE syndrome, see 147060. See also TYK2 deficiency (611521), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES2 and mendelian susceptibility to mycobacterial disease (MSMD; 209950) (Minegishi et al., 2006). [from OMIM]

Available tests

47 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HEL-205, HIES2, MRD2, ZIR8, DOCK8
    Summary: dedicator of cytokinesis 8

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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