DOCK2 deficiency due to a novel cryptic splice site mutation
Autosomal recessive dedicator of cytokinesis 2 (DOCK2) deficiency causes severe, early-onset bacterial and viral infections. We report three siblings with DOCK2 deficiency due to a novel homozygous synonymous variant that results in cryptic mRNA splicing and absence of wild-type protein.
Authors
- Andrew Richard Gennery (ORCID: https://orcid.org/0000-0002-6218-1324)
- Ina Schim van der Loeff (ORCID: https://orcid.org/0000-0003-1196-6196)
- Su Han Lum (ORCID: https://orcid.org/0000-0002-5471-029X)
- Manisha Ahuja (ORCID: https://orcid.org/0000-0001-6866-2754)
- Sophie Hambleton (ORCID: https://orcid.org/0000-0001-7954-3267)
- Joseph D. P. Willet
- Zohreh Nademi (ORCID: https://orcid.org/0000-0002-3874-2646)
- Angela Grainger (ORCID: https://orcid.org/0009-0003-8936-2525)
- Helen R Griffin (ORCID: https://orcid.org/0000-0002-5288-3322)
- Karin R. Engelhardt (ORCID: https://orcid.org/0000-0001-8513-9682)
- Mary Anne Slatter (ORCID: https://orcid.org/0000-0001-5407-7829)
- Andrew J. Cant (ORCID: https://orcid.org/0009-0006-6148-3511)
Institutions
- Newcastle upon Tyne Hospitals NHS Foundation Trust (GB)
- Newcastle upon Tyne Hospital (GB)
- Great North Children's Hospital (GB)
- Newcastle University (GB)
Publication Details
- Journal
- Journal of Human Immunity
- Published
- 2026-10-26
- DOI
- https://doi.org/10.70962/jhi.20260146
- Primary Topic
- Immunodeficiency and Autoimmune Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Wellcome Trust
- British Heart Foundation
- Kidney Research UK
- Diabetes UK
- Dunhill Medical Trust
- Academy of Medical Sciences
- Versus Arthritis
- Medical Research Council