https://doi.org/10.4081/reumatismo.2023.1543

Infliximab as successful treatment option in a case of adenosine deaminase 2 deficiency

Vol. 75 No. 4 (2023)
Submitted: 19 December 2022
Accepted: 13 October 2023
Published: 19 December 2023
DADA2, infliximab, erythema, ulcers
Abstract Views: 812
PDF: 145
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Authors

M.B. Ates
https://orcid.org/0009-0007-1812-9346
Division of Rheumatology, Department of Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Turkey.
S. Karup
https://orcid.org/0009-0007-2587-4707
Division of Rheumatology, Department of Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Turkey.
S. Ugurlu
serdalugurlu@gmail.com
Division of Rheumatology, Department of Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Turkey.

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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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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