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GTR Home > Conditions/Phenotypes > DOCK2 deficiency

DOCK2 deficiency

Synonyms
Immunodeficiency 40
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-40 is an autosomal recessive primary form of combined immunodeficiency mainly affecting T-cell number and function, with other more variable defects in B-cell and NK-cell function. Patients have onset of severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation (summary by Dobbs et al., 2015). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IMD40, DOCK2
    Summary: dedicator of cytokinesis 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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