{
  "abstract": "Adenosine deaminase 2 deficiency (DADA2) is an inborn error of immunity leading to systemic vasculitis, haematological manifestations, immune deficiency and/or autoimmunity. We report the case of a 26-year-old female with an initial diagnosis of systemic lupus erythematosus (SLE). However, atypical evolution patterns for SLE (hypogammaglobulinaemia, moderate B-cell lymphopenia, disappearance of anti-dsDNA) led to the identification of a homozygous class 5 missense variant of CECR1/ADA2, thus to a final diagnosis of DADA2. Strikingly, the patient was treated with anifrolumab (an anti-interferon alpha receptor 1 antibody) that rapidly induced clinical remission and significant corticosteroid tapering. Consistently, we show a lower type I interferon (IFN-I) score and a persistently low tumour necrosis factor α (TNFα) and IL-6 expression levels in whole blood cells of the patient during anifrolumab compared to anti-TNFα. Altogether, this case (1) illustrates the challenging diagnosis of DADA2 (SLE with hypogammaglobulinaemia) and (2) reinforces DADA2 as a disease at the border with type I interferonopathies. Besides, we report here, to our knowledge, the first description of a successful use of anifrolumab in DADA2, paving the way for further studies to validate this therapeutic approach.",
  "authors": [
    {
      "affiliations": [
        "Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France"
      ],
      "name": "Loris Vincenti"
    },
    {
      "affiliations": [
        "Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France",
        "Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon, Centre International de Recherche en Infectiologie, Lyon, France"
      ],
      "name": "Jonathan Sormani"
    },
    {
      "affiliations": [
        "Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon, Centre International de Recherche en Infectiologie, Lyon, France",
        "National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases, Hospices Civils de Lyon, Pediatric Nephrology, Rheumatology, Dermatology Unit, Mother and Children University Hospital, Lyon, France"
      ],
      "name": "Alexandre Belot"
    },
    {
      "affiliations": [
        "Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France"
      ],
      "name": "Maël Richard"
    },
    {
      "affiliations": [
        "Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France"
      ],
      "name": "Yoann Roubertou"
    },
    {
      "affiliations": [
        "Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France"
      ],
      "name": "Natacha Grienay-Poletto"
    },
    {
      "affiliations": [
        "Immunology Laboratory, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France"
      ],
      "name": "Anne Perrine Foray"
    },
    {
      "affiliations": [
        "Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon, Centre International de Recherche en Infectiologie, Lyon, France",
        "Immunology Laboratory, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France"
      ],
      "name": "Anaïs Nombel"
    },
    {
      "affiliations": [
        "Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France",
        "Research on Healthcare Performance (REHSAPE), INSERM U1290, Université Claude Bernard Lyon 1, Lyon, France"
      ],
      "name": "Isabelle Durieu"
    },
    {
      "affiliations": [
        "Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France",
        "Research on Healthcare Performance (REHSAPE), INSERM U1290, Université Claude Bernard Lyon 1, Lyon, France"
      ],
      "name": "Quitterie Reynaud"
    }
  ],
  "title": "Anifrolumab, a potential treatment for ADA2 deficiency",
  "uid": "3b3cd84f-8889-5498-aea3-e2a231fc2808"
}