{
  "abstract": "Autoimmune liver diseases (AILD), including autoimmune hepatitis (AIH) and autoimmune sclerosing cholangitis (ASC), are rare but important causes of chronic liver disease in children. Although HLA-DRB1 alleles have been associated with disease susceptibility, their role in modulating the clinical phenotype and long-term outcome of pediatric AILDs remains incompletely understood. We aimed to characterize the distribution of HLA-DRB1 alleles and genotype combinations and describe the accompanying clinical features in a pediatric AILD cohort. Thirty children diagnosed with AIH-1 (n = 14), AIH-2 (n = 6), or ASC (n = 10) underwent HLA-DRB1 genotyping. Clinical presentation, fibrosis stage, treatment response, and associated autoimmune diseases were retrospectively analyzed. The most frequent alleles copies were HLA-DRB1*03 (n = 15), predominantly identified in AIH, and HLA-DRB1*13 (n = 14), identified in both AIH and ASC. Genotype combinations involving these alleles were observed across a broad spectrum of clinical presentations, fibrosis stages, treatment responses, and extrahepatic autoimmune manifestations. In this small cohort, HLA-DRB1*14-containing genotypes were observed in several patients with severe disease features, including advanced fibrosis, cirrhosis, treatment-refractory disease, and ulcerative colitis. Patients carrying HLA-DRB1*11, HLA-DRB1*15, or HLA-DRB1*16 had favorable hepatic outcomes despite severe initial presentation or associated extrahepatic autoimmune manifestations; however, the number of carriers was small. Clinical features varied among patients carrying different genotype combinations; however, the independent contribution of the accompanying allele could not be assessed. Our findings illustrate marked clinical heterogeneity among children carrying different HLA-DRB1 alleles and genotype combinations. In this exploratory cohort, selected HLA-DRB1 combinations co-occurred with distinct clinical patterns. HLA profiling may have a role in future risk stratification and individualized follow-up of children with AILD, but these observations are hypothesis-generating, they do not support genotype-based clinical management and require validation in larger, multicenter cohorts.",
  "abstract_shown": true,
  "affiliations": [
    "2nd Pediatric Discipline, Department of Mother and Child, Iuliu Hatieganu University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania",
    "2nd Pediatric Clinic, Center of Expertise in Pediatric Liver Rare Diseases, Emergency Clinical Hospital for Children, 400177 Cluj-Napoca, Romania"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 9,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Alina Grama"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Alexandra Mititelu",
      "orcid": "0000-0002-0955-4486"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Gabriel Benţa",
      "orcid": "0000-0002-2099-8379"
    },
    {
      "affs": [
        0
      ],
      "name": "Raisa Sucaciu"
    },
    {
      "affs": [
        0
      ],
      "name": "Daniel Popescu"
    },
    {
      "affs": [
        0
      ],
      "name": "Bianca Mariş"
    },
    {
      "affs": [
        0
      ],
      "name": "Alexia Onaciu"
    },
    {
      "affs": [
        0
      ],
      "name": "Ştefan Agoston"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Tudor Lucian Pop",
      "orcid": "0000-0002-4931-1219"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/ed2k2pkapbt09.bib",
  "cited_by": 0,
  "doi": "10.3390/ijms27209002",
  "fulltext_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13704733/?tool=EBI",
  "id": "ed2k2pkapbt09",
  "issns": [
    "1422-0067"
  ],
  "landing_url": "https://www.mdpi.com/1422-0067/27/20/9002",
  "language": "eng",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2721|Liver Diseases and Immunity"
    ]
  ],
  "openalex": "W7221548092",
  "pdf_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13704733/pdf/?tool=EBI",
  "pmcid": "PMC13704733",
  "pmid": null,
  "published": "2026-10-01",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/ed2k2pkapbt09.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:18:55Z",
      "native_id": "10.3390/ijms27209002",
      "source": "crossref",
      "url": "https://www.mdpi.com/1422-0067/27/20/9002"
    },
    {
      "first_seen": "2026-10-30T12:21:34Z",
      "native_id": "PMC:PMC13704733",
      "source": "europepmc",
      "url": "https://europepmc.org/article/PMC/PMC13704733"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2721|Liver Diseases and Immunity",
      "subfield": "general"
    }
  ],
  "title": "Distinct Clinical Patterns Associated with HLA-DRB1 Genotypes in Pediatric Autoimmune Liver Diseases",
  "title_text": "Distinct Clinical Patterns Associated with HLA-DRB1 Genotypes in Pediatric Autoimmune Liver Diseases",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:21:34Z",
  "url": "https://research.draconitic.com/paper/ed2k2pkapbt09",
  "venue": "International Journal of Molecular Sciences",
  "versions": []
}