RESUMO
In recent years, monogenic causes of immune dysregulation syndromes, with variable phenotypes, have been documented. Mutations in the lipopolysaccharide-responsive beige-like anchor (LRBA) protein are associated with common variable immunodeficiency, autoimmunity, chronic enteropathy, and immune dysregulation disorders. The LRBA protein prevents degradation of cytotoxic T-lymphocyte antigen 4 (CTLA4) protein, thus inhibiting immune responses. Both LRBA and CTLA4 deficiencies usually present with immune dysregulation, mostly characterized by autoimmunity and lymphoproliferation. In this report, we describe a patient with an atypical clinical onset of LRBA deficiency and the patient's response to abatacept, a fusion protein-drug that mimics the action of CTLA4.
Assuntos
Abatacepte/uso terapêutico , Proteínas Adaptadoras de Transdução de Sinal/deficiência , Antígeno CTLA-4/agonistas , Síndromes de Imunodeficiência/tratamento farmacológico , Deficiência de Proteína/tratamento farmacológico , Enteropatias Perdedoras de Proteínas/tratamento farmacológico , Idade de Início , Antígeno CTLA-4/deficiência , Pré-Escolar , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/metabolismo , Síndromes de Imunodeficiência/patologia , Imunossupressores/uso terapêutico , Masculino , Prognóstico , Deficiência de Proteína/complicações , Deficiência de Proteína/metabolismo , Deficiência de Proteína/patologia , Enteropatias Perdedoras de Proteínas/complicações , Enteropatias Perdedoras de Proteínas/metabolismo , Enteropatias Perdedoras de Proteínas/patologiaRESUMO
Viral vasculitides have been previously reported in the literature, the role of infections in their pathogenesis ranging from direct cause to trigger event. Here we report the case of a 3-year-old immunocompetent girl who developed a systemic vasculitis leading to ileal perforation, mimicking a full blown picture of Henoch-Schönlein purpura. High dosage steroid treatment was started, with good response. The anatomopathological examination of the resected gastrointestinal tract showed features of necrotising vasculitis and cytomegalovirus (CMV)-related inclusion bodies in the endothelial cells, with direct correlation to vascular damage. The causative role of viral infection was revealed by the presence of CMV DNA in patient's blood and positive IgG titer against the virus. Steroid therapy was then tapered: the patient achieved clinical remission, which still persists after a six-months follow-up. Our report suggests that CMV vasculitis is probably more frequent than previously thought, even in immunocompetent patients, with a protean clinical presentation, mimicking other types of vasculitides.