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Peer-reviewedCC BYJournal of human immunity

DOCK2 deficiency due to a novel cryptic splice site mutation.

  • Manisha Ahuja1,2
  • Ina C D Schim van der Loeff1,3
  • Helen Griffin1
  • Angela Grainger1
  • Joseph D P Willet1
  • Mary Slatter1,3
  • Zohreh Nademi1,3
  • Andrew R Gennery1,3
  • Andrew J Cant1,3
  • Su Han Lum1,3
  • Sophie Hambleton1,3
  • Karin R Engelhardt1
  1. 1Translational and Clinical Research Institute, Newcastle University , Newcastle upon Tyne, UK.
  2. 2Clinical Immunology and Allergy, Newcastle upon Tyne Hospital NHS Foundation Trust , Newcastle upon Tyne, UK.
  3. 3Children's Haematopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne Hospital NHS Foundation Trust , Newcastle upon Tyne, UK.
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Abstract

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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Cite

BibTeXRIS
BibTeX
@article{ahuja2026dock2,
  title = {{DOCK2 deficiency due to a novel cryptic splice site mutation.}},
  author = {Manisha Ahuja and Ina C D Schim van der Loeff and Helen Griffin and Angela Grainger and Joseph D P Willet and Mary Slatter and Zohreh Nademi and Andrew R Gennery and Andrew J Cant and Su Han Lum and Sophie Hambleton and Karin R Engelhardt},
  journal = {Journal of human immunity},
  year = {2026},
  month = oct,
  doi = {10.70962/jhi.20260146},
  url = {https://europepmc.org/article/MED/42929757},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - DOCK2 deficiency due to a novel cryptic splice site mutation.
AU  - Manisha Ahuja
AU  - Ina C D Schim van der Loeff
AU  - Helen Griffin
AU  - Angela Grainger
AU  - Joseph D P Willet
AU  - Mary Slatter
AU  - Zohreh Nademi
AU  - Andrew R Gennery
AU  - Andrew J Cant
AU  - Su Han Lum
AU  - Sophie Hambleton
AU  - Karin R Engelhardt
PY  - 2026
DA  - 2026/10/26
JO  - Journal of human immunity
DO  - 10.70962/jhi.20260146
UR  - https://europepmc.org/article/MED/42929757
AB  - 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.
SN  - 3065-8993
ER  -