Anifrolumab, a potential treatment for ADA2 deficiency
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.
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BibTeX
@article{vincenti2026anifrolumab,
title = {{Anifrolumab, a potential treatment for ADA2 deficiency}},
author = {Loris Vincenti and Jonathan Sormani and Alexandre Belot and Maël Richard and Yoann Roubertou and Natacha Grienay-Poletto and Anne Perrine Foray and Anaïs Nombel and Isabelle Durieu and Quitterie Reynaud},
journal = {RMD Open},
year = {2026},
month = jul,
doi = {10.1136/rmdopen-2025-006569},
url = {https://hal.science/hal-05751863v1},
note = {CC BY-NC},
}
RIS
TY - JOUR
TI - Anifrolumab, a potential treatment for ADA2 deficiency
AU - Loris Vincenti
AU - Jonathan Sormani
AU - Alexandre Belot
AU - Maël Richard
AU - Yoann Roubertou
AU - Natacha Grienay-Poletto
AU - Anne Perrine Foray
AU - Anaïs Nombel
AU - Isabelle Durieu
AU - Quitterie Reynaud
PY - 2026
DA - 2026/07/06
JO - RMD Open
DO - 10.1136/rmdopen-2025-006569
UR - https://hal.science/hal-05751863v1
AB - 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.
SN - 2056-5933
ER -