Publicação
Case report : patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment
| Resumo: | 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. |
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| Autores principais: | Raimundo, Diana Simão |
| Outros Autores: | Cordeiro, Ana Isabel; Freixo, João Parente; Pinto, Marta Valente; Neves, Conceição; Neves, João Farela |
| Assunto: | DADA2 pericarditis leukocytoclastic vasculitis infliximab anti-TNF-α |
| Ano: | 2023 |
| País: | Portugal |
| Tipo de documento: | contribuição para revista |
| Tipo de acesso: | acesso aberto |
| Instituição associada: | Egas Moniz - Cooperativa de Ensino Superior, CRL |
| Idioma: | inglês |
| Origem: | Egas Moniz - Cooperativa de Ensino Superior, CRL |
| Resumo: | 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. |
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