Common Variable Immunodeficiency Associated with a De Novo IKZF1 Variant and a Low Humoral Immune Response to the SARS-CoV-2 Vaccine.

BACKGROUND AND AIMS: Common variable immunodeficiency (CVID) comprises a group of diseases with heterogeneous clinical and immunological manifestations. Several mutations have been identified in genes encoding proteins essential for immune function. Our aim was to phenotypically and genotypically characterize a patient diagnosed with CVID and study his response to the SARS-CoV-2 vaccine. METHODS: We performed a next-generation sequencing analysis, a CMIA, and an ELISA to analyze the humoral and cellular response to the SARS-CoV-2 vaccine, respectively. We also employed flow cytometry and immunoturbidimetry to assess the patient's global immune status. RESULTS: We found a low humoral but positive cellular response to the SARS-CoV-2 vaccine. NGS screening revealed a transition from guanine to adenine at position c.485 of the IKZF1 gene in heterozygosity, giving rise to the R162Q variant, which was not present in his parents. CONCLUSIONS: The R162Q variant of the IKZF1 gene has been associated with CVID type 13, but always with an autosomal dominant inheritance with high penetrance. Therefore, we present for the first time a case of CVID associated with a de novo heterozygous R162Q variant in the IKZF1 gene in a patient with a low humoral immune response to the complete COVID-19 vaccination program.

[Prevalence and relation of dyspepsia to irritable bowel syndrome in a native community of the Peruvian jungle]. / Prevalencia y asociación de la dispepsia y el síndrome de intestino irritable en una comunidad de la selva peruana.

INTRODUCTION: Dyspepsia and irritable bowel syndrome (IBS) are two of the most frequent syndromes in gastroenterology. However, very few epidemiological studies have been conducted in Peru and none in the Peruvian Jungle. OBJECTIVES: The objective of this study is to determine the prevalence of dyspepsia and irritable bowel syndrome in a jungle community of Peru and the recurrence percentage of these syndromes. MATERIALS AND METHODS: A sample was taken from 231 persons randomly selected using the "home by home" method, according to the map provided by Punta del Este Medical Center (city of Tarapoto - Department of San Mart n). The persons, considered to best typify the general population of the city, took two tests (Dyspepsia Test and Manning Test) that were previously validated during the months of January through March 1999. RESULTS: The prevalence of dyspepsia was 37.6%, and that of IBS, 22.0%. From those with dyspepsia, 38% had also IBS. From those with IBS, 65% reported dyspepsia symptoms. Prevalence of IBS was higher in individuals with dyspepsia (37.9%) than in individuals without dyspepsia (12.5% p< 0.01). The prevalence of both dyspepsia and IBS decreases as age increases. A statistically significant difference related to ethnicity was found in individuals with IBS. Dyspepsia and ethnicity were associated in 31.4% to individuals having both pathologies (p< 0.0001 and OR=4.28). The dyspepsia/IBS ratio was 1.7/1. CONCLUSION: There is a high prevalence of IBS and dyspepsia in the study population. The high association found between both syndromes may be due to the common etiopathogenic mechanisms they share such as: a visceral hypersensibility due to peripheral or central mechanisms, bowel motility disturbances or parasitosis. Our study suggests that both dyspepsia and IBS are the manifestations of the same digestive disorder, which has not been fully clarified yet.

Prevalencia y asociación de la dispepsia y el síndrome de intestino irritable en una comunidad de la selva peruana / Prevalence and relation of dyspepsia to irritable bowel syndrome in a native community of the peruvian jungle

Introducción: La dispepsia y el síndrome del intestino irritable(SII) son dos de los síndromes más frecuentes en la gastroenterología. Sin embargo, existen muy pocos trabajos epidemiológicos en el Perú y ninguno realizado en la selva peruana. Objetivos. El objetivo del presente trabajo es determinar la prevalencia de la dispepsia y el SII en una comunidad de la selva peruana y el porcentaje de co-ocurrencia de estos síndromes. Material y métodos: Se tomó una muestra de 231 personas escogidas al azar mediante la modalidad "casa por casa" según el mapa proporcionado por el Centro de Salud de Punta del Este (Tarapoto-Dpto San Martín) y considerada representativa de la población general de esa ciudad, a las cuales se les aplicaron dos encuestas (Test de dipepsia y Test de Manning) validadas previamente durante los meses de enero a marzo de 1999. Resultados: La prevalencia de la dispepsia fue de 37.6, por ciento y de SII de 22.0 por ciento. De los sujetos con dispepsia el 38 por ciento tuvieron SII. De los sujetos con SII el 65 por ciento reportó síntomas de dispepsia. La prevalencia del SII fue mayor en sujetos con dispepsia (37.9 por ciento) que en sujetos sin dispepsia (12.5 por ciento); p <0.01). La prevalencia tanto de la dispepsia como del SII disminuye conforme aumenta la edad . En las personas con SII se encontró una diferencia estadísticamente significativa en cuanto a la etnia. La dispepsia y el SII se asociaron en el 31.4 por ciento de las personas con ambas entidades (p<0.0001 y OR=4.28). La relación dispepsia/SII fue de 1.7/1. Conclusión: Existe una alta prevalencia del SII y dispepsia en la población estudiada. La alta asociación encontrada entre ambos síndromes se puede deber a que comparten mecanismos etiopatogénicos comunes como son: hipersensibilidada visceral debida a mecanismos periféricos o centrales, disturbios en la motilidad intestinal o parasitosis. Nuestro estudio sugiere que tanto la dispepsia como el SII son manifestaciones de un mismo desorden digestivo, aún no dilucidado por completo.