Síndrome de Wiskott-Aldrich en España: incidencia, mortalidad y sesgo de género durante 21 años / 21 years of Wiskott-Aldrich syndrome in Spain: incidence, mortality, and gender bias

Introducción El síndrome de Wiskott-Aldrich (SWA) es un trastorno raro ligado al cromosoma X que afecta predominantemente a los hombres. Objetivo Este estudio tiene como objetivo investigar la incidencia y muerte intrahospitalaria asociada al SWA en España, así como su sesgo de género. Métodos Se realizó un estudio epidemiológico retrospectivo de base poblacional de 97 pacientes con SWA diagnosticados en hospitales españoles entre 1997 y 2017, a través del Sistema Nacional del Conjunto Mínimo Básico de Datos al alta hospitalaria. Resultados Nuestros resultados revelaron que la incidencia media anual de SWA en España fue de 1,1 por 10 000 000 habitantes (IC95% 0,45−2,33). El riesgo relativo fue mayor en hombres que en mujeres (2,42). El diagnóstico de SWA se produce a edades más tardías en las mujeres (mediana de edad de 47 años) en comparación con los hombres (mediana de edad de 5,5 años). Solo hombres ingresaron al hospital al menos en 10 ocasiones diferentes y todas las muertes se detectaron en hombres. La tasa de mortalidad intrahospitalaria fue del 9,28% en WAS, siendo la mayoría de las muertes asociadas a hemorragia cerebral o infección. Conclusiones El SWA, una enfermedad rara, se diagnosticó en edades más tardías en mujeres y la mortalidad, mayoritariamente asociada a hemorragia cerebral e infección, afectó a hombres (AU)

Background Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder considered to predominantly affect males. Objective This study aims to investigate the incidence and intrahospital death associated with WAS in Spain as well as the gender bias. Methods A population-based retrospective epidemiological study of 97 WAS patients that were diagnosed in Spanish hospitals between 1997 and 2017 was conducted by using data from the National Surveillance System for Hospital Data. Results Our results revealed that the mean annual incidence of WAS in Spain was 1.1 per 10,000,000 inhabitants (CI95% 0,45-2,33). The relative risk was higher in male than female (2.42). WAS diagnosis occurs at later ages in women (median age of 47 years) compared to men (median age of 5.5 years). Only male were admitted to the hospital at least in 10 different occasions and all deaths were detected in men. The intra-hospital death rate was of 9.28% inWAS, being most of the deaths associated with brain hemorrhage or infection. Conclusions WAS, a rare disease, is diagnoses at later ages in women and the mortality wasfound in males mostly associated with brain hemorrhage and infection (AU)

21 years of Wiskott-Aldrich syndrome in Spain: incidence, mortality, and gender bias.

BACKGROUND: Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder considered to predominantly affect males. OBJECTIVE: This study aims to investigate the incidence and intrahospital death associated with WAS in Spain as well as the gender bias. METHODS: A population-based retrospective epidemiological study of 97 WAS patients that were diagnosed in Spanish hospitals between 1997 and 2017 was conducted by using data from the National Surveillance System for Hospital Data. RESULTS: Our results revealed that the mean annual incidence of WAS in Spain was 1.1 per 10,000,000 inhabitants (IC95% 0,45-2,33). The relative risk was higher in male than female (2.42). WAS diagnosis occurs at later ages in women (median age of 47 years) compared to men (median age of 5.5 years). Only male were admitted to the hospital at least in 10 different occasions and all deaths were detected in men. The intra-hospital death rate was of 9.28% in WAS, being most of the deaths associated with brain hemorrhage or infection. CONCLUSIONS: WAS, a rare disease, is diagnoses at later ages in women and the mortality was found in males mostly associated with brain hemorrhage and infection.

Integrated Signaling Pathways Mediate Bordetella Immunomodulation, Persistence, and Transmission.

The mammalian immune system includes a sophisticated array of antimicrobial mechanisms. However, successful pathogens have developed subversive strategies to detect, modulate, and/or evade immune control and clearance. Independent disciplines study host immunology and bacterial pathogenesis, but interkingdom signaling between bacteria and host during natural infection remains poorly understood. An efficient natural host infection system has revealed complex communication between Bordetella spp. and mice, identified novel regulatory mechanisms, and demonstrated that bordetellae can respond to microenvironment and inflammatory status cues. Understanding these bacterial signaling pathways and their complex network that allows precisely timed expression of numerous immunomodulatory factors will serve as a paradigm for other organisms lacking such a powerful experimental infection system. VIDEO ABSTRACT.