{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T14:24:13Z","timestamp":1783347853962,"version":"3.54.6"},"reference-count":12,"publisher":"BMJ","issue":"3","license":[{"start":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T00:00:00Z","timestamp":1783296000000},"content-version":"unspecified","delay-in-days":5,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009243","name":"Direction G\u00e9n\u00e9rale de l\u2019offre de Soins","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["RMD Open"],"accepted":{"date-parts":[[2026,4,3]]},"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:p>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 \u03b1 (TNF\u03b1) and IL-6 expression levels in whole blood cells of the patient during anifrolumab compared to anti-TNF\u03b1. 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.<\/jats:p>","DOI":"10.1136\/rmdopen-2025-006569","type":"journal-article","created":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T13:39:54Z","timestamp":1783345194000},"page":"e006569","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Anifrolumab, a potential treatment for ADA2 deficiency"],"prefix":"10.1136","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4745-6000","authenticated-orcid":false,"given":"Loris","family":"Vincenti","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-B\u00e9nite, 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6474-5181","authenticated-orcid":false,"given":"Ma\u00ebl","family":"Richard","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-B\u00e9nite, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoann","family":"Roubertou","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-B\u00e9nite, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natacha","family":"Grienay-Poletto","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-B\u00e9nite, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Perrine","family":"Foray","sequence":"additional","affiliation":[{"name":"Immunology 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