{
  "abstract": "STAT3 hyper-IgE syndrome (STAT3-HIES), historically known as Job syndrome, is a rare primary immunodeficiency caused by dominant-negative mutations in STAT3. STAT3-HIES is characterized by impaired mucosal immunity, connective tissue abnormalities, and recurrent cutaneous and pulmonary infections. Although STAT3-dependent immune and epithelial pathways are central to airway host defense, the respiratory microbiome in STAT3-HIES remains poorly defined. To address this question, we profiled upper and lower respiratory tract microbiomes using 16S rDNA gene sequencing of oral rinse samples from eight STAT3-HIES participants and eight matched healthy controls, and bronchoalveolar lavage fluid (BALF) samples from eight STAT3-HIES participants and six healthy controls that passed sequencing quality thresholds. Oral rinse samples from STAT3-HIES participants showed lower phylogenetic diversity and significantly altered microbial community structure compared with controls. In BALF, α-diversity was comparable between groups, but β-diversity differed significantly, indicating altered lower airway microbial community composition in STAT3-HIES. Differential abundance analysis identified enrichment of the genus Rothia in STAT3-HIES BALF, and Rothia relative abundance positively correlated with BALF IL-1β, IL-1RA, and IL-8. Although limited by cohort size, these findings provide the first characterization of respiratory microbiome alterations in STAT3-HIES and suggest that impaired STAT3-dependent immune pathways may influence airway microbial ecology and inflammatory responses.",
  "abstract_shown": true,
  "affiliations": [
    "Marsico Lung Institute/Cystic Fibrosis Research Center, University of North Carolina at Chapel Hill",
    "National Institutes of Allergy and Infectious Diseases, National Institutes of Health"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 9,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Cristian Roca"
    },
    {
      "affs": [
        0
      ],
      "name": "Matthew A. Greenwald"
    },
    {
      "affs": [
        0
      ],
      "name": "Bryan T. Zorn"
    },
    {
      "affs": [
        0
      ],
      "name": "Ling Sun"
    },
    {
      "affs": [
        0
      ],
      "name": "Gang Chen"
    },
    {
      "affs": [
        1
      ],
      "name": "Alexandra F. Freeman"
    },
    {
      "affs": [
        0
      ],
      "name": "Richard C. Boucher"
    },
    {
      "affs": [
        0
      ],
      "name": "Kenneth N. Olivier"
    },
    {
      "affs": [
        0
      ],
      "name": "Matthew C. Wolfgang"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/ehmyenexx29c7.bib",
  "cited_by": 0,
  "doi": "10.1186/s13023-026-04508-x",
  "fulltext_url": "https://doi.org/10.1186/s13023-026-04508-x",
  "id": "ehmyenexx29c7",
  "issns": [
    "1750-1172"
  ],
  "landing_url": "https://doi.org/10.1186/s13023-026-04508-x",
  "language": "en",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "journal",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "lcc",
      "R"
    ],
    [
      "openalex",
      "2403|Immunodeficiency and Autoimmune Disorders"
    ]
  ],
  "openalex": "W7170055328",
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-07-01",
  "publisher": "BMC",
  "ris": "https://research.draconitic.com/paper/ehmyenexx29c7.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T13:46:20Z",
      "native_id": "3ab33628d4c744eca409c39fb34c6164",
      "source": "doaj",
      "url": "https://doi.org/10.1186/s13023-026-04508-x"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2403|Immunodeficiency and Autoimmune Disorders",
      "subfield": "immunology"
    }
  ],
  "title": "Respiratory microbiome dysbiosis in STAT3 hyper-IgE syndrome (Job syndrome)",
  "title_text": "Respiratory microbiome dysbiosis in STAT3 hyper-IgE syndrome (Job syndrome)",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T13:46:20Z",
  "url": "https://research.draconitic.com/paper/ehmyenexx29c7",
  "venue": "Orphanet Journal of Rare Diseases",
  "versions": []
}