Myasthenia gravis in the complex scenario of LRBA-related immune dysregulation
Miastenia gravis no cenário clínico complexo das imunodesregulações relacionadas ao gene LRBA
Marcela Santarelli Casella; Roberta Ismael Lacerda Machado; Igor Braga Farias; Bruno de Mattos Lombardi Badia; Paulo de Lima Serrano; José Marcos Vieira de Albuquerque-Filho; Glenda Barbosa Barros; Hélvia Bertoldo de Oliveira; Samia Rogatis Calil; Isabela Danziato Fernandes; Roberta Correa Ribeiro; Wladimir Bocca Vieira de Rezende Pinto; Paulo Victor Sgobbi de Souza; Acary Souza Bulle Oliveira
Abstract
Autoimmune diseases have been progressively recognized as a potential complication of primary immunodeficiency, especially for some genetic subtypes of common variable immunodeficiency. Although often associated with other autoimmune disorders, autoimmune myasthenia gravis is occasionally identified as a neuromuscular complication of primary immunodeficiency. We report the case of a Brazilian woman with common variable immunodeficiency-8 due to an LRBA variant, in which myasthenia gravis was identified in association with anti-acetylcholine receptor antibody. Marked clinical improvement occurred after intravenous immunoglobulin therapy.
Keywords
Resumo
Doenças autoimunes foram progressivamente reconhecidas como complicações potenciais das imunodeficiências primárias, especialmente para alguns subtipos genéticos das imunodeficiências comuns variáveis. Embora se associe comumente a outras doenças autoimunes, a Miastenia gravis autoimune adquirida foi raramente associada como complicação neuromuscular de imunodeficiências primárias. É descrito neste artigo o caso de paciente brasileira do sexo feminino com diagnóstico de Imunodeficiência Comum Variável tipo 8 por variante no gene LRBA, na qual foi identificada Miastenia gravis em associação a anticorpos antirreceptor de acetilcolina. Ela evoluiu com marcante melhora clínica após a introdução de terapêutica com imunoglobulina endovenosa.
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Referências
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Submetido em:
27/09/2022
Aceito em:
20/02/2023
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