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1.
Artigo em Inglês | MEDLINE | ID: mdl-38317027

RESUMO

OBJECTIVES: VEXAS is a recently described acquired auto-inflammatory and hematologic syndrome caused by somatic mutations in UBA1. To date, VEXAS is not a recognized cause of acquired immunodeficiency. PATIENTS AND METHODS: Two of our 10 VEXAS patients developed a disseminated Mycobacterium avium infection. To shed light on this observation, we retrospectively studied all patients with disseminated non-tuberculous mycobacterial infections (NTMi) seen at our institution over 13 years. Inclusion criteria were a positive blood/bone marrow culture, or 2 positive cultures from distinct sites, or one positive culture with 2 involved sites. RESULTS: patient 1 presented with fever, rash, orbital cellulitis and lung infiltrates. Patient 2 presented with fever and purpura. In both cases, Mycobacterium avium was identified on bone marrow culture. Twenty cases of disseminated NTMi were reviewed. Among 11 HIV-negative patients, three had chronic immune-mediated disease; three had untreated myeloid neoplasm; two had VEXAS; one had undergone kidney transplantation; one had GATA-2 deficiency; and one had no identified aetiology. None had lymphoid neoplasia or had undergone bone marrow transplantation. HIV-negative cases had higher CD4 counts than HIV-positive patients (median CD4: 515/mm3  vs 38/mm3, p< 0.001). Monocytopenia was present in seven cases. At 2 years, six patients had died, including both VEXAS patients. DISCUSSION: VEXAS patients have an intrinsic susceptibility to disseminated NTMi, which may result from monocytic dysfunction. NTMi can mimic VEXAS flare. Clinicians should maintain a high suspicion for opportunistic infections before escalating immunosuppressive therapy. Further studies are needed to confirm and better decipher the herein reported observations.

2.
BMC Infect Dis ; 23(1): 283, 2023 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-37142957

RESUMO

BACKGROUND: Lyme neuroborreliosis (LNB), due to infection of the nervous system by the spirochete Borrelia burgdorferi, occurs in 15% of Lyme disease cases. However, neurovascular involvement is uncommon, especially recurrent stroke related to cerebral vasculitis in the absence of CSF pleocytosis. CASE PRESENTATION: We report the case of a 58-year-old man without any medical history who exhibited recurrent strokes in the same vascular territory (left internal carotid). Multiple biological screening, neuroimaging methods, and cardiovascular examinations failed to provide a diagnosis and treatment that could have prevented recurrences. Finally, B. burgdorferi sensu lato serology testing in blood and cerebrospinal fluid enabled diagnosis of LNB, in relation to a cerebral vasculitis. The patient experienced no further stroke after four weeks of doxycycline treatment. CONCLUSION: B. burgdorferi central nervous system infection must be considered in case of unexplained recurrent and/or multiple strokes, especially if cerebral vasculitis is suspected or demonstrated on neuroimaging.


Assuntos
Borrelia burgdorferi , Neuroborreliose de Lyme , Acidente Vascular Cerebral , Vasculite do Sistema Nervoso Central , Masculino , Humanos , Adulto , Pessoa de Meia-Idade , Neuroborreliose de Lyme/complicações , Neuroborreliose de Lyme/diagnóstico , Neuroborreliose de Lyme/tratamento farmacológico , Acidente Vascular Cerebral/etiologia , Infarto Cerebral , Vasculite do Sistema Nervoso Central/diagnóstico , Vasculite do Sistema Nervoso Central/tratamento farmacológico
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