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Publicação
Case Report
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Orientador(es)
Resumo(s)
Deficiency of adenosine deaminase 2 (DADA2), first reported in 2014, is a disease with great phenotypic variability, which has been increasingly reported. Therapeutic response depends on the phenotype. We present a case of an adolescent with recurrent fever, oral aphthous ulcers, and lymphadenopathy from 8 to 12 years of age and subsequently presented with symptomatic neutropenia. After the diagnosis of DADA2, therapy with infliximab was started, but after the second dose, she developed leukocytoclastic vasculitis and showed symptoms of myopericarditis. Infliximab was switched to etanercept, with no relapses. Despite the safety of tumor necrosis factor alpha inhibitors (TNFi), paradoxical adverse effects have been increasingly reported. The differential diagnosis between disease new-onset manifestations of DADA2 and side effects of TNFi can be challenging and warrants further clarification.
Descrição
Funding Information: This work is financed by national funds through the FCT - Foundation for Science and Technology, I.P., under the project UIDB/04585/2020. Publisher Copyright: 2023 Simão Raimundo, Cordeiro, Parente Freixo, Valente Pinto, Neves and Farela Neves.
Palavras-chave
adenosine deaminase 2 (ADA2) anti-TNF-α DADA2 infliximab leukocytoclastic vasculitis pericarditis Pediatrics, Perinatology, and Child Health