https://doi.org/10.4081/reumatismo.2023.1543
Infliximab as successful treatment option in a case of adenosine deaminase 2 deficiency
Submitted: 19 December 2022
Accepted: 13 October 2023
Published: 19 December 2023
Accepted: 13 October 2023
Abstract Views: 1022
PDF: 276
Publisher's note
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Authors
Deficiency of adenosine deaminase 2 (DADA2) is a recessively inherited autoinflammatory disease characterized by systemic inflammation and immunodeficiency. Infliximab proved to be favorable in the treatment of this condition. This case report is concerned with a DADA2 deficient patient treated with infliximab. This is a rare case of DADA2 in a 32-year-old female patient. The patient was admitted with a clinical presentation of erythema, ulcers, and pruritus on both legs and ankles, accompanied by red ulcerative oral lesions, fatigue, malaise, and dizziness. The patient’s genetic analysis was positive for DADA2. Treatment based on TNF-α inhibition was highly effective for this patient. We used laboratory testing and punch biopsy as differential diagnostic tools, where antinuclear antibody positivity, high prolactin levels, and high serum C-reactive protein were observed. The punch biopsy revealed both orthohyperkeratosis and parahyperkeratosis of the dermis, diffuse core fragments, plasma in the stratum corneum, and hypergranulous acanthosis. DADA2 treatment is centered on tumor necrosis factor α suppression. Although high-dose systemic glucocorticoids can reduce inflammation in the initial stages of the disease, most patients have a resistant or relapsing response to tapering attempts. The prevalence of undiagnosed cases of autoinflammatory diseases is anticipated to diminish with the growing awareness of them.
Zavialov AV, Engström A. Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity. Biochem J 2005; 391: 51-7.
DOI: https://doi.org/10.1042/BJ20050683
Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 2014; 370: 921-31.
DOI: https://doi.org/10.1056/NEJMoa1307362
Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014; 370: 911-20.
DOI: https://doi.org/10.1056/NEJMoa1307361
Gatti RA, Good RA. Macrophage function in severe combined immunodeficiency disease. J Pediatr 1972; 80: 285-9.
DOI: https://doi.org/10.1016/S0022-3476(72)80593-6
Fayand A, Chasset F, Boutboul D, Queyrel V, Tieulié N, Guichard I, et al. DADA2 diagnosed in adulthood versus childhood: a comparative study on 306 patients including a systematic literature review and 12 French cases. Semin Arthritis Rheum 2021; 51: 1170-9.
DOI: https://doi.org/10.1016/j.semarthrit.2021.09.001
Bourgeois G, Richard M, Danset M, Pérard L, Breton AL, Berthoux E. Deficiency of adenosine deaminase 2 diagnosed at 65 years of age. Lancet 2021; 397: 913.
DOI: https://doi.org/10.1016/S0140-6736(20)32660-X
Conticini E, Sota J, Falsetti P, Lamberti A, Miracco C, Guarnieri A, et al. Biologic drugs in the treatment of polyarteritis nodosa and deficit of adenosine deaminase 2: a narrative review. Autoimmun Rev 2021; 20: 102784.
DOI: https://doi.org/10.1016/j.autrev.2021.102784
Teixeira V, Oliveira-Ramos F, Costa M. Severe and refractory polyarteritis nodosa associated with CECR1 mutation and dramatic response to infliximab in adulthood. J Clin Rheumatol 2020; 26: e66-9.
DOI: https://doi.org/10.1097/RHU.0000000000000839
Aksentijevich I, Sampaio Moura N, Barron K. AdenosineDeaminase 2 Deficiency. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews®. Seattle: University of Washington, Seattle; 1993.
Caorsi R, Penco F, Grossi A, Insalaco A, Omenetti A, Alessio M, Conti G, et al. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis 2017; 76: 1648-56. Erratum in: Ann Rheum Dis 2019; 78: e73.
DOI: https://doi.org/10.1136/annrheumdis-2016-210802
Ombrello AK, Qin J, Hoffmann PM, Kumar P, Stone D, Jones A, et al. Treatment strategies for deficiency of adenosine deaminase 2. N Engl J Med 2019; 380: 1582-4.
DOI: https://doi.org/10.1056/NEJMc1801927
Hashem H, Kumar AR, Müller I, Babor F, Bredius R, Dalal J, et al. Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2. Blood 2017; 130: 2682-8.
DOI: https://doi.org/10.1182/blood-2017-07-798660
How to Cite
Ates, M., Karup, S., & Ugurlu, S. (2023). Infliximab as successful treatment option in a case of adenosine deaminase 2 deficiency. Reumatismo, 75(4). https://doi.org/10.4081/reumatismo.2023.1543
Copyright (c) 2023 the Author(s)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
Similar Articles
- R. Talotta, A. Berzi, F. Atzeni, D. Dell'Acqua, P. Sarzi Puttini, D. Trabattoni, Evaluation of Th9 lymphocytes in peripheral blood of rheumatoid arthritis patients and correlation with anti-tumor necrosis factor therapy: results from an in vitro pivotal study , Reumatismo: Vol. 68 No. 2 (2016)
- S. Casigliani Rabl, A. Della Rossa, P. Pepe, A. D'Ascanio, M. Mosca, A. Di Vita, S. Bombardieri, Long-term cyclic intravenous iloprost in systemic sclerosis: clinical experience from a single center , Reumatismo: Vol. 64 No. 3 (2012)
- J. Alungal, M.C. Abdulla, R. Narayan, Idiopathic granulomatous mastitis with erythema nodosum and polyarthritis , Reumatismo: Vol. 68 No. 2 (2016)
- E. Catarsi, M. Doveri, A. Tavoni, Bosentan and sildenafil: successful treatment in a sclerodermic patient with refractory ulcers , Reumatismo: Vol. 65 No. 2 (2013)
- C. Botsios, P. Ostuni, S. Todesco, Incidence and management of infusion reactions to infliximab in 186 italian patient’s with rheumatoid arthritis: the Padua experience , Reumatismo: Vol. 57 No. 1 (2005)
- Dilia Giuggioli, Rocco Magistro, Michele Colaci, Umberto Franciosi, Andrea Caruso, Clodoveo Ferri, The treatment of skin ulcers in systemic sclerosis: use of granulocyte-colony stimulating factor (G-CSF) in 26 patients , Reumatismo: Vol. 58 No. 1 (2006)
- G. De Marco, V. Gerloni, I. Pontikaki, A. Lurati, B. Teruzzi, A. Salmaso, E. Valcamonica, M. Gattinara, F. Fantini, Long-term evaluation of infliximab in the treatment of persistently active juvenile idiopathic arthritis refractory to conventional therapy , Reumatismo: Vol. 59 No. 1 (2007)
- A. Hoxha, A. Ruffatti, P. Grypiotis, M. Podswiadek, C. Botsios, U. Fiocco, L. Punzi, S. Todesco, Antinuclear, anti-dsDNA and anti-ENA antibodies in patients affected with rheumatoid arthritis or ankylosing spondylitis during treatement with infliximab , Reumatismo: Vol. 58 No. 2 (2006)
- A. Notarnicola, F. Iannone, G. Lopalco, M. Covelli, G. Lapadula, A false occult hepatitis B virus infection developed in a patient with psoriatic arthritis under infliximab and methotrexate therapy , Reumatismo: Vol. 65 No. 6 (2013)
- M. Sebastiani, A. Manfredi, M. Colaci, D. Giuggioli, R. La Sala, N. Elkhaldi, A. Antonelli, C. Ferri, Correlation of a quantitative videocapillaroscopic score with the development of digital skin ulcers in scleroderma patients , Reumatismo: Vol. 60 No. 3 (2008)
You may also start an advanced similarity search for this article.
