Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment

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...

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Main Authors: Diana Simão Raimundo (Author), Ana Isabel Cordeiro (Author), João Parente Freixo (Author), Marta Valente Pinto (Author), Conceição Neves (Author), João Farela Neves (Author)
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Published: Frontiers Media S.A., 2023-06-01T00:00:00Z.
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100 1 0 |a Diana Simão Raimundo  |e author 
700 1 0 |a Ana Isabel Cordeiro  |e author 
700 1 0 |a João Parente Freixo  |e author 
700 1 0 |a Marta Valente Pinto  |e author 
700 1 0 |a Marta Valente Pinto  |e author 
700 1 0 |a Conceição Neves  |e author 
700 1 0 |a João Farela Neves  |e author 
700 1 0 |a João Farela Neves  |e author 
700 1 0 |a João Farela Neves  |e author 
245 0 0 |a Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatment 
260 |b Frontiers Media S.A.,   |c 2023-06-01T00:00:00Z. 
500 |a 2296-2360 
500 |a 10.3389/fped.2023.1200401 
520 |a 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. 
546 |a EN 
690 |a DADA2 
690 |a pericarditis 
690 |a leukocytoclastic vasculitis 
690 |a infliximab 
690 |a anti-TNF-α 
690 |a adenosine deaminase 2 (ADA2) 
690 |a Pediatrics 
690 |a RJ1-570 
655 7 |a article  |2 local 
786 0 |n Frontiers in Pediatrics, Vol 11 (2023) 
787 0 |n https://www.frontiersin.org/articles/10.3389/fped.2023.1200401/full 
787 0 |n https://doaj.org/toc/2296-2360 
856 4 1 |u https://doaj.org/article/ae68f6160c3543dcbe1c84a28a81d5d3  |z Connect to this object online.