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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.
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INTRODUCTION: There has been a great advance in the treatment of inguinal hernias with a significant reduction in recurrences with the use of polypropylene mesh. Local complications such as infections, rejection, and chronic pain are widely studied and reported in the literature. The Autoimmune [Auto-inflammatory] Syndrome Induced by Adjuvants (ASIA) is little known and can be triggered by using polypropylene mesh. PRESENTATION OF THE CASE: 33-year-old female patient, married, and an administrative manager. History of smoking, previous breast surgery with silicone prosthesis, appendectomy. One year and four months ago, she underwent bilateral inguinal hernioplasty by laparoscopy. Shortly after the inguinal hernia surgery, systemic, urinary symptoms, and chronic local pain appeared. She reported low back pain, fatigue, memory loss, and mood swings associated with limiting pelvic pain, dysuria, and dyspareunia. We performed a robotic surgical procedure to remove the meshes bilaterally. Three days after surgery, the patient was discharged with adequate pain control, without the need for opioids. During outpatient follow-up, there was a significant improvement in symptoms, both local and systemic. DISCUSSION: Local complications with the use of polypropylene mesh to repair inguinal hernias are well described in the literature, highlighting chronic postoperative pain that can affect 10-20% of patients. Recently, polypropylene prostheses have been found to act as adjuvants and may be the trigger for an exacerbated immune response adaptive to an autoantigen. Thus, being capable of causing an autoimmune disease variant of the Autoimmune [Auto-inflammatory] Syndrome Induced by Adjuvants (ASIA), described by Shoenfeld and Agmon-Levin in 2011. CONCLUSION: In addition to local complications, systemic symptoms related to the use of polypropylene mesh can also occur. In the Autoimmune [Auto-inflammatory] Syndrome Induced by Adjuvants (ASIA), systemic symptoms, for being nonspecific, make diagnosis difficult and are often not attributed to the use of mesh.
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This is the first report of constrictive pericarditis (CP) in a 16-year-old boy with H syndrome with pericardial involvement predominantly over the right ventricle with favorable response to anti-inflammatory treatment. H syndrome, first reported in 2008, is a new auto-inflammatory syndrome with multiorgan involvement due to mutation in the SLC29A3 gene. We described the echocardiographic characteristics of asymmetric pericardial involvement and presented the cardiac computed tomography angiographic and magnetic resonance imaging findings. We reviewed the echocardiographic signs of CP, introduced tricuspid E/A respiratory alternans as a novel echocardiographic sign of right ventricular dominant CP, and explained the underlying mechanism.
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Pericarditis Constrictiva , Adolescente , Ecocardiografía , Humanos , Imagen por Resonancia Magnética , Masculino , Imagen Multimodal , Proteínas de Transporte de Nucleósidos , Pericarditis Constrictiva/diagnóstico , Pericarditis Constrictiva/diagnóstico por imagen , Pericardio/diagnóstico por imagenRESUMEN
INTRODUCTION: Anakinra is an anti-IL-1RA targeting IL-1ß with a central role in the occurrence of auto-inflammatory diseases. Its use is not without risk. CASE REPORT: We report a case of late onset auto-inflammatory syndrome treated with anti-IL-1RA whose progression was marked by deep isolated thrombocytopenia, rapidly regressive after discontinuation of anakinra. CONCLUSION: Immuno-allergic thrombocytopenia to anakinra is a rare, but serious adverse event.