Features include common findings: Recurrent pneumonia and Decreased total T cell count; and sometimes findings: Enlarged liver (hepatomegaly), Rectal fistula, Reduced antigen-specific T cell proliferation, and Elevated circulating alanine aminotransferase concentration and others. 22 total HPO annotations.

DOCK2 encodes dedicator of cytokinesis 2 (1,830 aa). Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines. Highest expression in Cells EBV-transformed lymphocytes (110.7 TPM) and Spleen (52.1 TPM).

DOCK2 deficiency is caused by mutations in the DOCK2 gene on chromosome 5.

The DOCK2 protein participates in RAC2 GEFs activate RAC2, RHOA GEFs activate RHOA, and CDC42 GEFs activate CDC42 pathways.

DOCK2 is classified as a druggable target with score 8.7.

Genetic testing for DOCK2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for DOCK2 deficiency has been reported in the published literature.

Phenotype severity distribution: 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for DOCK2 deficiency.

251 publications have been identified in PubMed for DOCK2 deficiency. Research spans Epidemiology / Natural History (42%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (15%).