{
  "abstract": "BCL10 deficiency is a rare combined immunodeficiency characterized by severe infections, chronic diarrhea, hypogammaglobulinemia, and impaired lymphocyte activation despite preserved lymphocyte counts. We report a novel homozygous BCL10 variant with durable cure and immune reconstitution following hematopoietic stem cell transplantation.",
  "abstract_shown": true,
  "affiliations": [
    "Section of Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.",
    "Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.",
    "College of Medicine, Alfaisal University , Riyadh, Saudi Arabia."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 3,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Marwa Ali",
      "orcid": "0000-0002-1396-2749"
    },
    {
      "affs": [
        1
      ],
      "name": "Anas M Alazami",
      "orcid": "0000-0002-5625-5585"
    },
    {
      "affs": [
        0,
        2
      ],
      "name": "Hamoud Al-Mousa",
      "orcid": "0000-0003-2508-0062"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/ba239t2ev3n65.bib",
  "cited_by": 0,
  "doi": "10.70962/jhi.20260126",
  "fulltext_url": "https://europepmc.org/articles/PMC13682335",
  "id": "ba239t2ev3n65",
  "issns": [
    "3065-8993"
  ],
  "landing_url": "https://europepmc.org/article/MED/42900001",
  "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": "W7223048462",
  "pdf_url": "https://europepmc.org/articles/PMC13682335?pdf=render",
  "pmcid": "PMC13682335",
  "pmid": "42900001",
  "published": "2026-10-20",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/ba239t2ev3n65.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:32Z",
      "native_id": "MED:42900001",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42900001"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2403|Immunodeficiency and Autoimmune Disorders",
      "subfield": "immunology"
    }
  ],
  "title": "BCL10 deficiency: Long-term immune reconstitution following hematopoietic stem cell transplantation.",
  "title_text": "BCL10 deficiency: Long-term immune reconstitution following hematopoietic stem cell transplantation.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:19:32Z",
  "url": "https://research.draconitic.com/paper/ba239t2ev3n65",
  "venue": "Journal of human immunity",
  "versions": []
}