{
  "abstract": "NBAS deficiency is a multisystem disorder, but its immunologic manifestations and underlying mechanisms remain poorly defined. Here, we expand the genotypic and phenotypic spectrum of NBAS deficiency through four patients carrying five loss-of-function NBAS mutations. Minigene assays and RNA analysis showed that these splicing or missense mutations resulted in aberrant alternative splicing. Clinically, the patients showed early-onset recurrent or persistent cytopenias and immune dysregulation, together with severe infections, inflammatory activation, and multi-organ involvement, including renal and neurologic manifestations. Transcriptomic analysis revealed overactivation of type I interferon signaling pathways compared with healthy controls, and single-cell RNA sequencing demonstrated that this upregulated inflammation was predominantly driven by myeloid cells. Together, these findings identify NBAS deficiency as a cause of immune dysregulation characterized by myeloid-driven type I interferonopathy, expand the clinical spectrum of NBAS-related disorders, and highlight the critical role of NBAS in maintaining immune homeostasis.",
  "abstract_shown": true,
  "affiliations": [
    "State Key Laboratory of Common Mechanism Research for Major Diseases, Institute of Basic Medical Sciences & School of Basic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.",
    "Department of Nephrology, Rheumatology and Immunology, The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, China.",
    "Department of Rheumatology, Immunology and Allergy, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.",
    "Department of Nephrology and Immunology, Children's Hospital of Soochow University, Suzhou, China.",
    "Life Sciences Institute, Zhejiang University , Hangzhou, China.",
    "Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.",
    "Liangzhu Laboratory of Zhejiang University School of Medicine, Hangzhou, China.",
    "Department of Hematology, The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital), Changsha, China.",
    "Department of Rheumatology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.",
    "Department of Rheumatology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 13,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Chenlu Liu",
      "orcid": "0009-0004-6731-9072"
    },
    {
      "affs": [
        1
      ],
      "name": "Liang Zhang",
      "orcid": "0000-0002-5954-5828"
    },
    {
      "affs": [
        2
      ],
      "name": "Meiping Lu",
      "orcid": "0000-0002-4930-9493"
    },
    {
      "affs": [
        3
      ],
      "name": "Yunyan Shen",
      "orcid": "0000-0002-7360-4572"
    },
    {
      "affs": [
        4
      ],
      "name": "Yuhao Yao",
      "orcid": "0009-0006-8751-9324"
    },
    {
      "affs": [
        5
      ],
      "name": "Fei Liu",
      "orcid": "0000-0001-9098-9155"
    },
    {
      "affs": [
        6
      ],
      "name": "Qintao Wang",
      "orcid": "0000-0001-6884-3408"
    },
    {
      "affs": [
        7
      ],
      "name": "Benshan Zhang",
      "orcid": "0009-0009-9918-3962"
    },
    {
      "affs": [
        2
      ],
      "name": "Li Guo",
      "orcid": "0000-0003-0088-868X"
    },
    {
      "affs": [
        3
      ],
      "name": "Xiaozhong Li",
      "orcid": "0000-0002-2911-7814"
    },
    {
      "affs": [
        0,
        8
      ],
      "name": "Qing Zhou"
    },
    {
      "affs": [
        5
      ],
      "name": "Jianhua Mao",
      "orcid": "0000-0002-6076-3806"
    },
    {
      "affs": [
        6,
        9
      ],
      "name": "Xiaomin Yu",
      "orcid": "0000-0002-6981-5772"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/8gfzfcg29frpf.bib",
  "cited_by": 0,
  "doi": "10.70962/jhi.20260018",
  "fulltext_url": "https://europepmc.org/articles/PMC13715549",
  "id": "8gfzfcg29frpf",
  "issns": [
    "3065-8993"
  ],
  "landing_url": "https://europepmc.org/article/MED/42949555",
  "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": [
    [
      "heading",
      "Article"
    ],
    [
      "heading",
      "Inborn Errors of Immunity"
    ],
    [
      "openalex",
      "2403|Immunodeficiency and Autoimmune Disorders"
    ]
  ],
  "openalex": "W7224122676",
  "pdf_url": "https://europepmc.org/articles/PMC13715549?pdf=render",
  "pmcid": "PMC13715549",
  "pmid": "42949555",
  "published": "2026-10-28",
  "publisher": "The Rockefeller University Press",
  "ris": "https://research.draconitic.com/paper/8gfzfcg29frpf.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T00:20:33Z",
      "native_id": "MED:42949555",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42949555"
    },
    {
      "first_seen": "2026-11-01T12:22:49Z",
      "native_id": "PMC13715549",
      "source": "pmc",
      "url": "https://doi.org/10.70962/jhi.20260018"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2403|Immunodeficiency and Autoimmune Disorders",
      "subfield": "immunology"
    }
  ],
  "title": "Deficiency of NBAS causes immune dysregulation due to hyperactivation of IFN signaling.",
  "title_text": "Deficiency of NBAS causes immune dysregulation due to hyperactivation of IFN signaling.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-01T12:22:49Z",
  "url": "https://research.draconitic.com/paper/8gfzfcg29frpf",
  "venue": "Journal of human immunity",
  "versions": []
}