{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Translational and Clinical Research Institute, Newcastle University , Newcastle upon Tyne, UK.",
    "Clinical Immunology and Allergy, Newcastle upon Tyne Hospital NHS Foundation Trust , Newcastle upon Tyne, UK.",
    "Children's Haematopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne Hospital NHS Foundation Trust , Newcastle upon Tyne, UK."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 12,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Manisha Ahuja",
      "orcid": "0000-0001-6866-2754"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Ina C D Schim van der Loeff",
      "orcid": "0000-0003-1196-6196"
    },
    {
      "affs": [
        0
      ],
      "name": "Helen Griffin",
      "orcid": "0000-0002-5288-3322"
    },
    {
      "affs": [
        0
      ],
      "name": "Angela Grainger",
      "orcid": "0009-0003-8936-2525"
    },
    {
      "affs": [
        0
      ],
      "name": "Joseph D P Willet",
      "orcid": "0009-0003-2355-4356"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Mary Slatter",
      "orcid": "0000-0001-5407-7829"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Zohreh Nademi",
      "orcid": "0009-0004-8389-8924"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Andrew R Gennery",
      "orcid": "0000-0002-6218-1324"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Andrew J Cant",
      "orcid": "0009-0006-6148-3511"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Su Han Lum",
      "orcid": "0000-0002-5471-029X"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Sophie Hambleton",
      "orcid": "0000-0001-7954-3267"
    },
    {
      "affs": [
        0
      ],
      "name": "Karin R Engelhardt",
      "orcid": "0000-0001-8513-9682"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/b74b5xnawyfvp.bib",
  "cited_by": 0,
  "doi": "10.70962/jhi.20260146",
  "fulltext_url": "https://europepmc.org/articles/PMC13701129",
  "id": "b74b5xnawyfvp",
  "issns": [
    "3065-8993"
  ],
  "landing_url": "https://europepmc.org/article/MED/42929757",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2403|Immunodeficiency and Autoimmune Disorders"
    ]
  ],
  "openalex": "W7223678602",
  "pdf_url": "https://europepmc.org/articles/PMC13701129?pdf=render",
  "pmcid": "PMC13701129",
  "pmid": "42929757",
  "published": "2026-10-26",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/b74b5xnawyfvp.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:21:51Z",
      "native_id": "MED:42929757",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42929757"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2403|Immunodeficiency and Autoimmune Disorders",
      "subfield": "immunology"
    }
  ],
  "title": "DOCK2 deficiency due to a novel cryptic splice site mutation.",
  "title_text": "DOCK2 deficiency due to a novel cryptic splice site mutation.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:21:51Z",
  "url": "https://research.draconitic.com/paper/b74b5xnawyfvp",
  "venue": "Journal of human immunity",
  "versions": []
}