A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)

• Egile Nagusiak: Leonardo Oliveira Mendonça (Egilea), Alice Grossi (Egilea), Francesco Caroli (Egilea), Robson Aguiar de Oliveira (Egilea), Jorge Kalil (Egilea), Fabio Fernandes Morato Castro (Egilea), Alessandra Pontillo (Egilea), Isabella Ceccherini (Egilea), Myrthes Anna Maragna Toledo Barros (Egilea), Marco Gattorno (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2020-08-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract Background Deficiency of the natural antagonist of interleukin-1 was first described in 2009 and so far 20 patients has been reported. In Brazil just two cases have been reported both carrying the same homozygous 15 bp deletion. Blocking interleukin-1 has changed rate survival for DIRA pati...