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
Abstract Views: 1033
PDF: 284
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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.

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Citations

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

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