{
  "abstract": "MHC class II (MHC-II) deficiency is a rare inborn error of immunity caused by defects in transcriptional regulators of MHC-II expression. In this study, we characterized the clinical, immunological, and molecular features of 107 patients from 98 unrelated Algerian families. Median ages at symptom onset and diagnosis were 5 and 14 mo, respectively, with pneumonia (82%) and chronic diarrhea (73%) predominating. CD4+ T cell lymphopenia occurred in 87.6% and naïve CD4+ T cell depletion in 86.0%. Among 99 genetically characterized patients, variants were identified exclusively in RFXANK (77.8%) and RFXAP (22.2%), including two predominant mutations (RFXANK c.338-25_338del and RFXAP c.368del) and four novel variants. Exploratory comparisons suggested a more severe phenotype in patients carrying RFXAP c.368del than in those carrying RFXANK c.338-25_338del. Five of seven transplanted patients survived versus 33.3% of non-transplanted patients. As the largest MHC-II deficiency cohort reported to date, this study substantially expands current knowledge of the disease and supports targeted genetic diagnosis in North African populations.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Immunology, Beni Messous University Hospital Center, Algiers Faculty of Pharmacy, The University of Health Sciences, Algiers, Algeria.",
    "Department of Pediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.",
    "Department of Pediatrics A, Beni Messous University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.",
    "Department of Pediatric Pulmonology and Allergology, Canastel Children's Hospital, Oran Faculty of Medicine, The University of Oran, Oran, Algeria.",
    "Department of Pediatrics, Setif University Hospital Center, Setif Faculty of Medicine, The University of Setif 1, Setif, Algeria.",
    "Department of Immunology, Beni Messous University Hospital Center, Algiers, Algeria.",
    "Department of Pediatrics B, Beni Messous University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.",
    "Department of Pediatrics, Bab El Oued University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.",
    "Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.",
    "National Institute of Allergy and Infectious Diseases, National Institutes of Health , Bethesda, MD, USA.",
    "Department of Pediatrics, Bejaia University Hospital Center, Bejaia Faculty of Medicine, The University of Bejaia, Bejaia, Algeria.",
    "Department of Pediatrics B, Hussein Dey University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.",
    "Department of Pediatrics B, Hussein Dey University Hospital Center, Algiers, Algeria.",
    "Department of Pediatrics, Bologhine Hospital, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.",
    "Department of Pediatrics, Birtraria Hospital, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.",
    "Department of Pediatrics, Beni Messous Military Mother and Child Hospital, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.",
    "Department of Pediatrics, Specialized Mother and Child Hospital of Tlemcen, Tlemcen Faculty of Medicine, The University of Tlemcen, Tlemcen, Algeria.",
    "Department of Pediatrics, Specialized Mother and Child Hospital of Tlemcen, Tlemcen, Algeria.",
    "Department of Pediatrics A, Hussein Dey University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.",
    "Department of Pediatrics, Mustapha Bacha University Hospital Center, Algiers, Algeria.",
    "Department of Pediatrics, Mustapha Bacha University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.",
    "Department of Pediatric Gastroenterology and Nutrition, Canastel Children's Hospital, Oran Faculty of Medicine, The University of Oran, Oran, Algeria.",
    "Department of Pediatric Infectious Diseases, Canastel Children's Hospital, Oran Faculty of Medicine, The University of Oran, Oran, Algeria.",
    "Department of Neonatology, Specialized Mother and Child Hospital of Batna, Batna Faculty of Medicine, The University of Batna, Batna, Algeria.",
    "Department of Pediatrics, Specialized Mother and Child Hospital of Batna, Batna Faculty of Medicine, The University of Batna, Batna, Algeria.",
    "Department of Pediatrics, Batna University Hospital Center, Batna Faculty of Medicine, The University of Batna, Batna, Algeria.",
    "Department of Phthisiology and Pulmonology, Beni Messous University Hospital Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.",
    "Department of Pediatrics, Sidi Bel Abbes University Hospital Center, Sidi Bel Abbes Faculty of Medicine, The University of Sidi Bel Abbes, Sidi Bel Abbes, Algeria.",
    "Department of Pediatrics, Regional Military University Hospital of Constantine, Constantine Faculty of Medicine, The University of Constantine, Constantine, Algeria.",
    "Department of Pediatrics B, Constantine University Hospital Center, Constantine Faculty of Medicine, The University of Constantine, Constantine, Algeria.",
    "Department of Pediatrics, Tizi Ouzou University Hospital Center, Tizi Ouzou Faculty of Medicine, The University of Tizi Ouzou, Tizi Ouzou, Algeria.",
    "Department of Hematology and Bone Marrow Transplantation, Pierre and Marie Curie Center, Algiers Faculty of Medicine, The University of Health Sciences, Algiers, Algeria.",
    "Department of Hematology and Bone Marrow Transplantation, Pierre and Marie Curie Center, Algiers Faculty of Pharmacy, The University of Health Sciences, Algiers, Algeria.",
    "Department of Pediatrics, Tlemcen University Hospital Center, Tlemcen Faculty of Medicine, The University of Tlemcen, Tlemcen, Algeria."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 66,
  "authors": [
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      "name": "Lydia Lamara Mahammed",
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      "name": "Amina Saad Djaballah",
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      "name": "Lamia Amirat",
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      "name": "Meriem Oussalah",
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      "name": "Yacine Inouri",
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      "name": "Saadeddine Dib",
      "orcid": "0009-0002-2298-1957"
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      "name": "Fatima Benbida",
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      "name": "Chahynez Boubidi",
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      "name": "Hind Ismahen Titri",
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      "name": "Lynda Sekfali",
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      "name": "Sidi Mohamed Azzouz",
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      "name": "Ahmed Kadi",
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      "name": "Djazia Elhadef",
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      "name": "Hamza Boucenna",
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      "name": "Khadidja Benallal",
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      "name": "Moufida Djalab",
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      "name": "Chahrazed El Mezouar",
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      "name": "Rachid Bouhdjila",
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      "name": "Malek Benakli",
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      "name": "Salih Bendeddouche",
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  ],
  "bibtex": "https://research.draconitic.com/paper/dmmft425m4h78.bib",
  "cited_by": 0,
  "doi": "10.70962/jhi.20260162",
  "fulltext_url": "https://europepmc.org/articles/PMC13721797",
  "id": "dmmft425m4h78",
  "issns": [
    "3065-8993"
  ],
  "landing_url": "https://europepmc.org/article/MED/42961318",
  "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"
    ],
    [
      "heading",
      "T and B cell combined deficiencies"
    ],
    [
      "openalex",
      "2403|Immunodeficiency and Autoimmune Disorders"
    ]
  ],
  "openalex": "W7224891309",
  "pdf_url": "https://europepmc.org/articles/PMC13721797?pdf=render",
  "pmcid": "PMC13721797",
  "pmid": "42961318",
  "published": "2026-10-30",
  "publisher": "The Rockefeller University Press",
  "ris": "https://research.draconitic.com/paper/dmmft425m4h78.ris",
  "sources": [
    {
      "first_seen": "2026-11-01T00:20:50Z",
      "native_id": "MED:42961318",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42961318"
    },
    {
      "first_seen": "2026-11-03T12:22:25Z",
      "native_id": "PMC13721797",
      "source": "pmc",
      "url": "https://doi.org/10.70962/jhi.20260162"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2403|Immunodeficiency and Autoimmune Disorders",
      "subfield": "immunology"
    }
  ],
  "title": "MHC-II deficiency in a large Algerian cohort: Clinical, immunological, and genetic characterization.",
  "title_text": "MHC-II deficiency in a large Algerian cohort: Clinical, immunological, and genetic characterization.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-03T12:22:25Z",
  "url": "https://research.draconitic.com/paper/dmmft425m4h78",
  "venue": "Journal of human immunity",
  "versions": []
}