Answers are grounded in this paper and cite their sources.
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.
No takes yet. Share an insight, caveat, or question.
Ahuja et al. (2026) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: