{
  "abstract": "Background: Germline Signal Transducer and Activator of Transcription 1 (STAT1) gain-of-function (GOF) variants enhance cellular responses to IL-27 and type I, II, and III interferons, predisposing to fungal, bacterial, and viral infections and immune dysregulation.\n\nMethods: Mexican patients with pathogenic STAT1-GOF variants identified at referral centers were enrolled.\n\nResults: Thirty patients from 17 kindreds were included. Fifteen variants were identified, including the novel C324W variant, confirmed as GOF by functional studies. All patients developed mucocutaneous candidiasis. Among 25 BCG-vaccinated patients, 24% developed BCG disease. According to the Graham criteria, seven patients (23%) with tuberculosis were classified as confirmed (n=1), possible (n=3), and probable (n=3) cases. Three patients developed both BCG disease and tuberculosis. Autoinflammatory and autoimmune manifestations occurred in 50% and 40%, respectively. Two patients developed infection-triggered macrophage activation syndrome. Seven patients (23%) died.\n\nConclusions: This cohort illustrates the broad clinical spectrum of STAT1 GOF disease, including infectious, inflammatory, autoimmune, and hematological manifestations. BCG disease and tuberculosis were observed in a subset of patients, highlighting the complexity of clinical presentation and the importance of comprehensive evaluation and follow-up.",
  "abstract_shown": true,
  "affiliations": [
    "Laboratory of Immunodeficiency, National Institute of Pediatrics",
    "Department of Pediatrics, Hiroshima University Hospital",
    "Hiroshima University Graduate School of Biomedical and Health Sciences",
    "Department of Allergy and Immunology, Siglo XXI National Medical Center, Mexican Social Security Institute (IMSS)",
    "Division of Genetic Medicine and Clinical Pharmacology, Department of Medicine, Vanderbilt Genetics Institute, Vanderbilt University Medical Center",
    "Division of Molecular Pathogenesis, Department of Pathology, Microbiology, and Immunology, Vanderbilt Center for Immunobiology, Vanderbilt Institute for Infection, Immunology, and Inflammation, Vanderbilt University Medical Center",
    "Clinical Microbiology Laboratory, National Institute of Medical Sciences and Nutrition Salvador Zubirán",
    "Infectious Diseases Department, National Institute of Medical Sciences and Nutrition Salvador Zubirán",
    "Department of Immunology, National Institute of Pediatrics",
    "Department of Immunology, Hospital Infantil de Especialidades de Chihuahua",
    "Department of Internal Medicine, Hospital General de México",
    "Department of Immunology and Allergy, Angeles Hospital",
    "Department of Immunology, Hospital de la Niñez Poblana",
    "Department of Allergy and Clinical Immunology Department, Nuevo Hospital Civil de Guadalajara “Dr. Juan I.Menchaca",
    "Department of Immunology, Unidad Médica de Alta Especialidad (UMAE) No. 25, Mexican Social Security Institute (IMSS)",
    "Department of Allergy and Clinical Immunology, UMAE “La Raza”, Mexican Social Security Institute (IMSS)",
    "Department of Immunology, Centro Médico de Occidente, Mexican Social Security Institute (IMSS)",
    "Regional Center of Allergy and Clinical Immunology, Hospital Universitario “Dr. José Eleuterio González”",
    "Université Paris Cité, Imagine Institute, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale U1163, Necker Hospital for Sick Children",
    "Laboratory of Human Genetics of Infectious Diseases, University of Texas Southwestern Medical Center",
    "Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center",
    "Department of Microbiology, University of Texas Southwestern Medical Center",
    "Howard Hughes Medical Institute",
    "Center for Immunology, Allergy, and Pediatrics, Hospital Ángeles Lomas",
    "Department of Infectious Diseases, National Institute of Pediatrics",
    "Department of Mycology, National Institute of Pediatrics",
    "Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP"
  ],
  "article_type": "research article",
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        0
      ],
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    },
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      "name": "Carla Marina Román-Montes"
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      "name": "Marco Antonio Yamazaki-Nakashimada"
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      "name": "Gina Maribel Meléndez-Díaz"
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      "name": "Carlos Gerardo Zuñiga-Lagunes"
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      "name": "Héctor Gómez-Tello"
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      "name": "María Enriqueta Nuñez-Nuñez"
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      "name": "Beatriz Bayardo Gutiérrez"
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      "name": "Aidé Tamara Staines-Boone"
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      "name": "Saúl Oswaldo Lugo Reyes"
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      "name": "Yuridia Salazar-Gálvez"
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      "name": "Cristina Moctezuma-Trejo"
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    {
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      "name": "Angélica Kathya Alaníz-Flores"
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      "name": "Noemi Gómez-Hernández"
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      "name": "Margarita Ortega-Cisneros"
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      "name": "María del Carmen Zárate-Hernández"
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        0
      ],
      "name": "Juan Carlos Bustamante-Ogando"
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    {
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        18
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      "name": "Camille Soudée"
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        18
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      "name": "Jérémie Rosain"
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      "name": "Stéphanie Boisson-Dupuis"
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      "name": "Mélanie Migaud"
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      "name": "Jean Laurent Casanova"
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      "name": "Francisco Javier Espinosa-Rosales"
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      "name": "Giancarlo Hernán Cristerna Tarrasa"
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      "name": "Deborah Palacios-Reyes"
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      "name": "Anne Puel"
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      "name": "Jacinta Bustamante"
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      "name": "Sara Espinosa-Padilla"
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      "name": "Lizbeth Blancas Galicia"
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  "published": "2026-10-20",
  "publisher": "Frontiers Media SA",
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      "subfield": "immunology"
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  "title": "Clinical manifestations of patients with STAT1 gain-of-function variants in Mexico",
  "title_text": "Clinical manifestations of patients with STAT1 gain-of-function variants in Mexico",
  "type": "peer-reviewed",
  "updated_at": "2026-11-06T12:23:04Z",
  "url": "https://research.draconitic.com/paper/0xetre0tcwmhj",
  "venue": "Frontiers in Immunology",
  "versions": []
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