Early-onset recurrent panniculitis as a phenotype of NLRC4-associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant.

Monoallelic NLRC4 gain-of-function variants cause an inflammasomopathy with diverse clinical forms including infantile enterocolitis, recurrent macrophage activation syndrome, cold-induced urticaria-like lesions (or familial-cold autoinflammatory syndrome, FCAS4), and painful subcutaneous nodules. Here, we identified a large family with six consecutive generations affected. Genetic analyses detected the heterozygous p.Ser445Pro NLRC4 variant in three patients, which has been previously reported in a Dutch family with FCAS4. We aimed to describe the clinicopathological features and the functional consequences of the detected NLRC4 variant. Patients presented an early-onset (3 months-6 years) inflammatory disease characterized by recurrent panniculitis, fever and arthralgia. Histopathological examination showed perivascular and interstitial lymphohistiocytic infiltrates in the dermis and mixed panniculitis. Functional analysis supported the conclusion that the p.Ser445Pro NLRC4 variant leads to a constitutive activation of NLRC4-inflammasome and increased plasma levels of IL-18. Prompt recognition of early-onset panniculitis through clinicopathological examination and laboratory biomarkers may allow targeted therapies.

Relevance of screening for Chagas and viral hepatitis in Bolivian migrants

Objectives: Given the scarcity of data regarding prevalence of various infectious diseases in Latin-American countries, our study aims to assess the burden of T. cruzi, S. stercoralis, HIV and viral hepatitis in Latin-American migrants, with a focus on Bolivian migrants.MethodsWe performed a retrospective observational study of 565 screening evaluations in adults (≥18 years) carried out at our International Healthcare referral service in Barcelona. We reviewed structured clinical records and microbiological results of patients attended between February 2012 and April 2015.ResultsThe median age was 35 years and 74% were women. Of the population screened, 87% were of Bolivian origin. We found a 48% prevalence of T. cruzi, 16% of S. stercoralis, 0.2% of HIV, 0.2% HBV and 0.2% HCV.ConclusionsThese results support the relevance of screening for T. cruzi and S. stercoralis in Bolivian migrants but challenge the pertinence of systematic screening for HBV in this population. (AU)

Objetivos: Dada la escasez de datos con relación a la prevalencia de diversas enfermedades infecciosas en los países iberoamericanos, el objetivo de nuestro estudio fue evaluar la carga de T. cruzi, S. stercoralis, VIH y hepatitis vírica en los emigrantes iberoamericanos, con especial atención en los emigrantes bolivianos.MétodosEstudio observacional retrospectivo de 565 cribados en adultos (≥ 18 años) realizado en nuestro servicio de Servicio de Salud Internacional en Barcelona. Revisamos los registros clínicos estructurados y los resultados microbiológicos de los pacientes asistidos entre febrero de 2012 y abril de 2015.ResultadosLa edad media fue de 35 años y el 74% fueron mujeres. El origen boliviano representó el 87% de la población cribada. Encontramos una prevalencia de 48% de T. cruzi, 16% de S. stercoralis, 0,2% de VIH, 0,2% de VHB y 0,2% de VHC.ConclusionesEstos resultados respaldan la relevancia del cribado de T. cruzi y S. stercoralis en migrantes bolivianos, aunque cuestiona la pertinencia del cribado sistemático de VHB en esta población. (AU)

Relevance of screening for Chagas and viral hepatitis in Bolivian migrants.

OBJECTIVES: Given the scarcity of data regarding prevalence of various infectious diseases in Latin-American countries, our study aims to assess the burden of T. cruzi, S. stercoralis, HIV and viral hepatitis in Latin-American migrants, with a focus on Bolivian migrants. METHODS: We performed a retrospective observational study of 565 screening evaluations in adults (≥18 years) carried out at our International Healthcare referral service in Barcelona. We reviewed structured clinical records and microbiological results of patients attended between February 2012 and April 2015. RESULTS: The median age was 35 years and 74% were women. Of the population screened, 87% were of Bolivian origin. We found a 48% prevalence of T. cruzi, 16% of S. stercoralis, 0.2% of HIV, 0.2% HBV and 0.2% HCV. CONCLUSIONS: These results support the relevance of screening for T. cruzi and S. stercoralis in Bolivian migrants but challenge the pertinence of systematic screening for HBV in this population.