DOI: 10.70962/jhi.20260146 ISSN: 3065-8993

DOCK2 deficiency due to a novel cryptic splice site mutation

Manisha Ahuja, Ina C.D. Schim van der Loeff, Helen Griffin, Angela Grainger, Joseph D.P. Willet, Mary Slatter, Zohreh Nademi, Andrew R. Gennery, Andrew J. Cant, Su Han Lum, Sophie Hambleton, Karin R. Engelhardt
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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.

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