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1.
J Clin Immunol ; 44(8): 171, 2024 Aug 05.
Artículo en Inglés | MEDLINE | ID: mdl-39102004

RESUMEN

PURPOSE: Chronic granulomatous disease (CGD) is an inherited immunodeficiency caused by pathogenic variants of genes encoding the enzyme complex NADPH oxidase. In countries where tuberculosis (TB) is endemic and the Bacillus Calmette-Guérin (BCG) vaccine is routinely administered, mycobacteria are major disease-causing pathogens in CGD. However, information on the clinical evolution and treatment of mycobacterial diseases in patients with CGD is limited. The present study describes the adverse reactions to BCG and TB in Mexican patients with CGD. METHODS: Patients with CGD who were evaluated at the Immunodeficiency Laboratory of the National Institute of Pediatrics between 2013 and 2024 were included. Medical records were reviewed to determine the clinical course and treatment of adverse reactions to BCG and TB disease. RESULTS: A total of 79 patients with CGD were included in this study. Adverse reactions to BCG were reported in 55 (72%) of 76 patients who received the vaccine. Tuberculosis was diagnosed in 19 (24%) patients. Relapse was documented in three (10%) of 31 patients with BGC-osis and six (32%) of 19 patients with TB, despite antituberculosis treatment. There was no difference in the frequency of BCG and TB disease between patients with pathogenic variants of the X-linked CYBB gene versus recessive variants. CONCLUSIONS: This report highlights the importance of considering TB in endemic areas and BCG complications in children with CGD to enable appropriate diagnostic and therapeutic approaches to improve prognosis and reduce the risk of relapse.


Asunto(s)
Vacuna BCG , Enfermedad Granulomatosa Crónica , NADPH Oxidasa 2 , Tuberculosis , Humanos , Enfermedad Granulomatosa Crónica/diagnóstico , Enfermedad Granulomatosa Crónica/epidemiología , Enfermedad Granulomatosa Crónica/complicaciones , Vacuna BCG/efectos adversos , Masculino , Femenino , Niño , Tuberculosis/epidemiología , Tuberculosis/inmunología , Preescolar , Lactante , Adolescente , NADPH Oxidasa 2/genética , Estudios de Cohortes , Mycobacterium bovis , México/epidemiología , Antituberculosos/uso terapéutico , NADPH Oxidasas/genética
2.
J Clin Immunol ; 43(1): 123-135, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-36044171

RESUMEN

Mendelian susceptibility to mycobacterial disease (MSMD) is a rare genetic disorder characterized by impaired immunity against intracellular pathogens, such as mycobacteria, attenuated Mycobacterium bovis-Bacillus Calmette-Guérin (BCG) vaccine strains, and environmental mycobacteria in otherwise healthy individuals. Retrospective study reviewed the clinical, immunological, and genetic characteristics of patients with MSMD in Mexico. Overall, 22 patients diagnosed with MSMD from 2006 to 2021 were enrolled: 14 males (64%) and eight females. After BCG vaccination, 12 patients (70%) developed BCG infection. Furthermore, 6 (22%) patients developed bacterial infections mainly caused by Salmonella, as what is described next in the text is fungal infections, particularly Histoplasma. Seven patients died of disseminated BCG disease. Thirteen different pathogenic variants were identified in IL12RB1 (n = 13), IFNGR1 (n = 3), and IFNGR2 (n = 1) genes. Interleukin-12Rß1 deficiency is the leading cause of MSMD in our cohort. Morbidity and mortality were primarily due to BCG infection.


Asunto(s)
Infecciones por Mycobacterium , Mycobacterium bovis , Masculino , Femenino , Humanos , Estudios Retrospectivos , Vacuna BCG , Predisposición Genética a la Enfermedad , México/epidemiología , Receptores de Interleucina-12/genética , Infecciones por Mycobacterium/epidemiología , Infecciones por Mycobacterium/genética
3.
J Clin Immunol ; 40(3): 475-493, 2020 04.
Artículo en Inglés | MEDLINE | ID: mdl-32040803

RESUMEN

PURPOSE: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by an inability of phagocytes to produce reactive oxygen species, impairing their killing of various bacteria and fungi. We summarize here the 93 cases of CGD diagnosed in Mexico from 2011 to 2019. METHODS: Thirteen Mexican hospitals participated in this study. We describe the genetic, immunological, and clinical features of the 93 CGD patients from 78 unrelated kindreds. RESULTS: Eighty-two of the patients (88%) were male. All patients developed bacterial infections and 30% suffered from some kind of fungal infection. Fifty-four BCG-vaccinated patients (58%) presented infectious complications of BCG vaccine. Tuberculosis occurred in 29%. Granulomas were found in 56% of the patients. Autoimmune and inflammatory diseases were present in 15% of patients. A biological diagnosis of CGD was made in 89/93 patients, on the basis of NBT assay (n = 6), DHR (n = 27), and NBT plus DHR (n = 56). The deficiency was complete in all patients. The median age of biological diagnosis was 17 months (range, 0-186 months). A genetic diagnosis was made in 83/93 patients (when material was available), corresponding to CYBB (n = 64), NCF1 (n = 7), NCF2 (n = 7), and CYBA (n = 5) mutations. CONCLUSIONS: The clinical manifestations in these Mexican CGD patients were similar to those in patients elsewhere. This cohort is the largest in Latin America. Mycobacterial infections are an important cause of morbidity in Mexico, as in other countries in which tuberculosis is endemic and infants are vaccinated with BCG. X-linked CGD accounted for most of the cases in Mexico, as in other Latin American countries. However, a significant number of CYBA and NCF2 mutations were identified, expanding the spectrum of known causal mutations.


Asunto(s)
Enfermedad Granulomatosa Crónica/inmunología , Mutación/genética , Infecciones por Mycobacterium/epidemiología , Mycobacterium/fisiología , NADPH Oxidasa 2/genética , NADPH Oxidasas/genética , Adolescente , Autoinmunidad , Niño , Preescolar , Estudios de Cohortes , Femenino , Genes Ligados a X , Enfermedad Granulomatosa Crónica/epidemiología , Enfermedad Granulomatosa Crónica/genética , Humanos , Lactante , Recién Nacido , Inflamación , Masculino , México/epidemiología
6.
J Exp Med ; 221(7)2024 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-38753245

RESUMEN

Preterm infants are at high risk of developing neonatal sepsis. γδ T cells are thought to be an important set of effector cells in neonates. Here, γδ T cells were investigated in a longitudinal cohort of preterm neonates using next-generation sequencing, flow cytometry, and functional assays. During the first year of life, the Vγ9Vδ2 T cell subset showed dynamic phenotypic changes and elevated levels of fetal-derived Vγ9Vδ2 T cells were evident in infants with sepsis. Single-cell transcriptomics identified HLA-DRhiCD83+ γδ T cells in neonatal sepsis, which expressed genes related to antigen presentation. In vitro assays showed that CD83 was expressed on activated Vγ9Vδ2 T cells in preterm and term neonates, but not in adults. In contrast, activation of adult Vγ9Vδ2 T cells enhanced CD86 expression, which was presumably the key receptor to induce CD4 T cell proliferation. Together, we provide a map of the maturation of γδ T cells after preterm birth and highlight their phenotypic diversity in infections.


Asunto(s)
Antígeno CD83 , Sepsis Neonatal , Receptores de Antígenos de Linfocitos T gamma-delta , Adulto , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Antígenos CD/metabolismo , Antígenos CD/genética , Estudios de Cohortes , Recien Nacido Prematuro/inmunología , Activación de Linfocitos/inmunología , Glicoproteínas de Membrana/metabolismo , Glicoproteínas de Membrana/genética , Sepsis Neonatal/inmunología , Receptores de Antígenos de Linfocitos T gamma-delta/metabolismo , Receptores de Antígenos de Linfocitos T gamma-delta/inmunología , Subgrupos de Linfocitos T/inmunología , Subgrupos de Linfocitos T/metabolismo
8.
Cell Rep ; 42(10): 113230, 2023 10 31.
Artículo en Inglés | MEDLINE | ID: mdl-37815917

RESUMEN

T cell receptor (TCR) Vγ4-expressing γδ T cells comprise interferon γ (IFNγ)- and interleukin-17 (IL-17)-producing effector subsets, with a preference for IL-17 effector fate decisions during early ontogeny. The existence of adult-thymus-derived IL-17+ T cells (γδ17) remains controversial. Here, we use a mouse model in which T cells are generated exclusively in the adult thymus and employ single-cell chromatin state analysis to study their development. We identify adult-thymus-derived Vγ4 T cells that have all the molecular programs to become IL-17 producers. However, they have reduced IL-17 production capabilities and rarely reach the periphery. Moreover, this study provides high-resolution profiles of Vγ4 T cells in the adult thymus and lymph nodes and identifies Zeb1 as a potential γδ17 cell regulator. Together, this study provides valuable insights into the developmental traits of Vγ4 T cells during adulthood and supports the idea of age-specific signals required for thymic export and/or peripheral maturation of γδ17 cells.


Asunto(s)
Interleucina-17 , Receptores de Antígenos de Linfocitos T gamma-delta , Ratones , Animales , Miembro 3 del Grupo F de la Subfamilia 1 de Receptores Nucleares , Ratones Endogámicos C57BL , Linfocitos T , Timo , Subgrupos de Linfocitos T , Proteínas Proto-Oncogénicas c-maf
9.
Front Nutr ; 10: 1220013, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37799766

RESUMEN

Background and aims: Many improvements have been made in the treatment of human immunodeficiency virus (HIV) in pediatric patients; however, challenges remain in terms of achieving normal growth, body composition, and metabolism during treatment, etc. Current nutritional recommendations are based on studies performed in adults, with limited data on the HIV-infected pediatric population. Therefore, this study aimed to compare the resting energy expenditure (REE) of asymptomatic HIV-infected pediatric patients with healthy counterparts and to compare body composition, dietary intake, and physical activity between the two groups. Methods: This was a cross-sectional study of asymptomatic HIV-infected children who were receiving antiretroviral therapy; the infected group was compared with the uninfected group, matched by age (± 6 months), sex, and body mass index (± 0.5 z-score). Participants were recruited between 2021 and 2022, as outpatients. In both groups, REE was determined by indirect calorimetry and body composition by bioelectrical impedance analysis and hand strength, measured using a hydraulic hand dynamometer. Results: Seventy-eight participants were enrolled, where n = 39 HIV-infected children and n = 39 controls, with a mean age of 11.6 ± 3.4 years old. REE was significantly higher in the HIV group (1254.4 ± 334.7 kcal/day vs. 1124.7 ± 321 kcal/day, p = 0.013) than in the control group. Fat-free mass (FFM) was lower in the HIV group (28.2 ± 10.5 kg vs. 32 ± 11.2 kg, p = 0.001); this trend continued when the index skeletal muscle was evaluated (7.2 ± 1.2 vs. 7.6 ± 1.5, p = 0.04). The strength of the dominant hand was also lower in the HIV group (12 (8-18) kg vs. 20 (10.5-26) kg, p < 0.0001). Conclusions: Children with asymptomatic HIV infection have higher REE than their uninfected peers. They also present decreased FFM, skeletal muscle mass index, and muscle strength. These parameters should be considered during nutritional assessment in this population to have a favorable impact on nutritional status and growth.

10.
Rev Alerg Mex ; 69(4): 220-227, 2023 Apr 19.
Artículo en Español | MEDLINE | ID: mdl-37218049

RESUMEN

INTRODUCTION: Chronic granulomatous disease (CGD) is an inborn error of immunity, characterized by abnormal susceptibility to bacterial and fungal infections and a lack of systemic inflammatory regulation. Pathogenic variants in the CYBB gene are transmitted in an X-linked pattern of inheritance; while the pathogenic variants present in the EROS, NCF1, NCF2, NCF4, or CYBA genes are transmitted with an autosomal recessive inheritance pattern. OBJETIVES: To describe the clinical, immunological, and genetic characteristics of two patients with CGD and BCG infection. METHODS: In peripheral blood neutrophils, H2O2 production and the expression of NADPH oxidase subunits were measured. Detection of pathogenic variants was by Sanger sequencing of the NCF2 gene. The clinical information was extracted from the records by the treating physicians. RESULTS: We present two male infants from two unrelated families of Mayan ethnicity, with CGD and BCG vaccine infection. Three different pathogenic variants in the NCF2 gene were identified; on the one hand, c.304 C>T (p.Arg102*) has already been reported, on the other hand, c.1369 A>T (p.Lys457*) and c.979 G>T (p.Gly327*) not reported. CONCLUSIONS: In patients with mycobacterial infection with BCG, we should suspect an inborn error of immunity, such as CGD. The diagnosis of CGD is made through the detection of a lack of radical oxygen species in neutrophils. The reported patients had pathogenic variants in the NCF2 gene, two of which have not been previously reported in the literature.


INTRODUCCIÓN: La enfermedad granulomatosa crónica (EGC) es un error innato de la inmunidad, se caracteriza por una susceptibilidad a padecer infecciones bacterianas y fúngicas y a una falta de regulación inflamatoria sistémica. Las variantes patogénicas en el gen CYBB se trasmiten con un patrón de herencia ligada al X; mientras que las variantes patogénicas presentes en los genes EROS, NCF1, NCF2, NCF4 o CYBA se trasmiten con un patrón de herencia autosómico recesivo. OBJETIVOS: Describir las características clínicas, inmunológicas y genéticas de dos pacientes con EGC e infección por BCG. MÉTODOS: En neutrófilos de sangre periférica se midió la producción de H2O2 y la expresión de las subunidades de la NADPH oxidasa. La detección de las variantes patogénicas fue por secuenciación Sanger del gen NCF2. La información clínica fue extraída de los expedientes por los médicos tratantes. RESULTADOS: Presentamos a dos lactantes masculinos de dos familias no relacionadas de la etnia maya, con EGC e infección por la vacuna de BCG. Se identificaron tres diferentes variantes patogénicas en el gen NCF2; por un lado, c.304 C>T (p.Arg102*) ya reportada, por otro lado, c.1369 A>T (p.Lys457*) y c.979 G>T (p.Gly327*) no reportadas. CONCLUSIONES: En pacientes con infección micobacteriana por BCG debemos sospechar en un error innato de la inmunidad, como la EGC. El diagnóstico de EGC se realiza a través de la detección de una falta de producción de radicales libres en los neutrófilos. Los pacientes reportados tuvieron variantes patogénicas en el gen NCF2, dos de ellas no han sido reportadas previamente en la literatura.


Asunto(s)
Enfermedad Granulomatosa Crónica , Mycobacterium bovis , Humanos , Lactante , Masculino , Vacuna BCG/efectos adversos , Etnicidad , Enfermedad Granulomatosa Crónica/genética , Enfermedad Granulomatosa Crónica/diagnóstico , Peróxido de Hidrógeno , Mutación , NADPH Oxidasas/genética , Indígenas Centroamericanos
11.
Front Immunol ; 13: 807765, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35250979

RESUMEN

Effector capabilities of γδ T cells are evident in Plasmodium infection in young and adult individuals, while children are the most vulnerable groups affected by malaria. Here, we aimed to investigate the age-dependent phenotypic composition of Vδ1+, Vδ2+, and Vδ3+ T cells in children living in endemic malaria areas and how this differs between children that will develop symptomatic and asymptomatic Plasmodium falciparum infections. Flow cytometric profiling of naïve and effector peripheral blood γδ T cells was performed in 6 neonates, 10 adults, and 52 children. The study population of young children, living in the same malaria endemic region of Ghana, was monitored for symptomatic vs asymptomatic malaria development for up to 42 weeks after peripheral blood sampling at baseline. For the Vδ2+ T cell population, there was evidence for an established type 1 effector phenotype, characterized by CD94 and CD16 expression, as early as 1 year of life. This was similar among children diagnosed with symptomatic or asymptomatic malaria. In contrast, the proportion of type 2- and type 3-like Vδ2 T cells declined during early childhood. Furthermore, for Vδ1+ and Vδ3+ T cells, similar phenotypes of naïve (CD27+) and type 1 effector (CD16+) cells were observed, while the proportion of CD16+ Vδ1+ T cells was highest in children with asymptomatic malaria. In summary, we give evidence for an established adult-like γδ T cell compartment in early childhood with similar biology of Vδ1+ and Vδ3+ T cells. Moreover, the data supports the idea that type 1 effector Vδ1+ T cells mediate the acquisition of and can potentially serve as biomarker for natural immunity to P. falciparum infections in young individuals from malaria-endemic settings.


Asunto(s)
Malaria Falciparum , Malaria , Preescolar , Ghana/epidemiología , Humanos , Fenotipo , Receptores de Antígenos de Linfocitos T gamma-delta/metabolismo
12.
J Mycol Med ; 32(1): 101204, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34598111

RESUMEN

Chromoblastomycosis is a chronic subcutaneous mycosis caused by traumatic inoculation of dematiaceous fungi especially in tropical and subtropical areas. Cyphellophora genus include melanized fungi reported as etiological agents of skin and nail infections. We report a 60-year-old male from the south of Mexico with a 40-year history of chromoblastomycosis caused by Cyphellophora laciniata. The isolated fungus was identified by sequencing of the internal transcribed spacer region of rDNA. The patient was treated with itraconazole and cryosurgery with unsatisfactory results.


Asunto(s)
Ascomicetos , Cromoblastomicosis , Antifúngicos/uso terapéutico , Ascomicetos/genética , Cromoblastomicosis/diagnóstico , Cromoblastomicosis/tratamiento farmacológico , Cromoblastomicosis/microbiología , Humanos , Itraconazol/uso terapéutico , Masculino , Persona de Mediana Edad
13.
Rev Alerg Mex ; 68(2): 117-127, 2021.
Artículo en Español | MEDLINE | ID: mdl-34525783

RESUMEN

Chronic granulomatous disease (CGD) is an inborn error of immunity that affects the functionality of phagocytosis; specifically, there's lack of production of oxygen-free radicals by NADPH oxidase. CGD manifests as severe and recurring bacterial and fungal infections, as well as local and systemic hyperinflammation. In countries where tuberculosis is endemic and the BCG vaccine is mandatory at birth, patients with CGD may present local or systemic reactions to this vaccine as first manifestation; besides, recurrent infections by M. tuberculosis may be present throughout their life. The susceptibility of these patients to mycobacteria is due to the excessive production of pro-inflammatory cytokines and the formation of granulomas that are inefficient in containing mycobacteria. In developed countries, patients with CGD do not present this type of infectious manifestations, except for migrants who come from developing countries. In this review, we present the characteristics of infections by BCG, M. tuberculosis, and other types of mycobacteria. Interestingly, there are no guidelines regarding anti-tuberculosis treatments in patients with CGD, so we propose the realization of a consensus by experts in order to establish guidelines for the treatment of mycobacterial disease in CGD.


La enfermedad granulomatosa crónica (ECG) es un error innato de la inmunidad que afecta la funcionalidad de la fagocitosis, específicamente hay una falta de producción de radicales libres de oxígeno por la NADPH oxidasa. La EGC se manifiesta con infecciones bacterianas y fúngicas, recurrentes y graves e hiperinflamación local y sistémica. En países en donde la tuberculosis es endémica y la vacuna BCG es obligatoria al nacer, los pacientes con EGC pueden presentar como primera manifestación las reacciones locales o sistémicas a esta vacuna y además a lo largo de su vida infecciones recurrentes por M. tuberculosis. La susceptibilidad de estos pacientes a micobacterias es debida a la producción excesiva de citocinas proinflamatorias y la formación de granulomas ineficientes en la contención de la micobacteria. En los países desarrollados, los pacientes con EGC no presentan este tipo de manifestaciones infecciosas, salvo los migrantes de países en desarrollo. En esta revisión, presentamos las características de las infecciones por BCG, M. tuberculosis y otras micobacterias. Interesantemente no existen lineamientos en cuanto a los tratamientos antituberculosos en pacientes con EGC, por lo que proponemos realizar un consenso por expertos para establecer lineamientos para el tratamiento de la enfermedad por micobacterias en EGC.


Asunto(s)
Enfermedad Granulomatosa Crónica , Tuberculosis , Vacuna BCG , Humanos , Recién Nacido , NADPH Oxidasas , Fagocitosis , Tuberculosis/tratamiento farmacológico , Tuberculosis/epidemiología
14.
Nutr Hosp ; 38(3): 622-630, 2021 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-33829849

RESUMEN

INTRODUCTION: Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2). Compared with adults, children with SARS-CoV-2 infection may have fewer and less severe symptoms. Gastrointestinal symptoms are commonly reported in children, sometimes as the only manifestation of the disease, and most often manifest as anorexia, diarrhea, nausea and vomiting, or abdominal pain. Although most children have asymptomatic or mild disease, 10 % of those infected may experience serious or critical disease, or even death. Multisystem inflammatory syndrome is a rare but serious condition recently reported in children with COVID-19. Studies indicate that children with obesity are at higher risk of developing severe COVID-19, and inflammation associated with obesity could be one of the factors that worsens COVID-19 symptoms due to an increased inflammatory response involving molecules such as interleukin 6, tumor necrosis factor alpha, and monocyte chemoattractant protein. On the other hand, evidence has been reported of a higher protein expression of ACE2 in the visceral adipose tissue of obese and malnourished humans, and this could be associated with complications and severity of COVID-19. Therefore, regulation of the intake of macronutrients or micronutrients could be used as a strategy to reduce the consequences of COVID-19. Diet in general and bioactive compounds could play an important role in the prevention of the inflammatory cascade. The micronutrients with the most evidence suggesting a role in immune support are vitamins C and D, zinc, and polyphenols.


INTRODUCCIÓN: La enfermedad por coronavirus 2019 (COVID-19) está causada por el virus "síndrome respiratorio agudo severo-coronavirus 2" (SARS-CoV-2). En comparación con los adultos, los niños con infección por SARS-CoV-2 pueden tener menos síntomas y estos pueden ser menos graves. Los síntomas gastrointestinales se informan comúnmente en los niños, a veces como única manifestación de la enfermedad. Los más comunes son anorexia, diarrea, náuseas y vómitos, y dolor abdominal. Aunque la mayoría de los niños tienen un cuadro leve o asintomático, el 10 % de los infectados pueden experimentar un cuadro grave o crítico, e incluso la muerte. El síndrome inflamatorio multisistémico es una afección poco común, pero grave, que se documentó recientemente en niños con COVID-19. Los estudios indican que los niños con obesidad tienen mayor riesgo de desarrollar COVID-19 grave, y la inflamación asociada con la obesidad podría ser uno de los factores que empeoran los síntomas de la COVID-19 debido a una respuesta inflamatoria aumentada en donde se ven involucradas moléculas como la interleucina 6, el factor de necrosis tumoral alfa y la proteína quimioatrayente de monocitos. Por otro lado, se ha encontrado evidencia de una mayor expresión proteica de ACE2 en el tejido adiposo visceral de los seres humanos obesos y desnutridos, y esto podría estar asociado a las complicaciones y la severidad de la COVID-19. Por tanto, la regulación de la ingesta de macronutrientes o micronutrientes podría utilizarse como estrategia para reducir las consecuencias de la enfermedad. La dieta en general y los compuestos bioactivos podrían desempeñar un papel importante en la prevención de la cascada inflamatoria. Los micronutrientes con mayor evidencia indicativa de que desempeñan un papel en el apoyo inmunológico son las vitaminas C y D, el zinc y los polifenoles.


Asunto(s)
COVID-19/complicaciones , Enfermedades Gastrointestinales/etiología , Obesidad Infantil/complicaciones , Dolor Abdominal/etiología , Enzima Convertidora de Angiotensina 2/metabolismo , Anorexia/etiología , Ácido Ascórbico/administración & dosificación , COVID-19/etiología , COVID-19/metabolismo , Niño , Diarrea/etiología , Femenino , Humanos , Inflamación/complicaciones , Masculino , Náusea/etiología , Sobrepeso/complicaciones , Estrés Oxidativo , Obesidad Infantil/metabolismo , Polifenoles/administración & dosificación , Síndrome de Respuesta Inflamatoria Sistémica/etiología , Delgadez/complicaciones , Delgadez/metabolismo , Vitamina D/administración & dosificación , Vitaminas/administración & dosificación , Vómitos/etiología , Zinc/administración & dosificación , Zinc/deficiencia
15.
Rev Alerg Mex ; 68(3): 198-205, 2021.
Artículo en Español | MEDLINE | ID: mdl-34634850

RESUMEN

Chronic granulomatous disease (CGD) is an inborn error of immunity caused by a defect in one of the components of the NADPH oxidase complex, which is responsible for generating reactive oxygen species (ROS) during the respiratory burst in phagocytes. The absence of ROS produced by NADPH oxidase in neutrophils and in macrophages leads to greater susceptibility to certain bacterial and fungal infections, and also to inflammatory manifestations due to a deregulated inflammatory response, which suggests that the ability to adequately regulate inflammatory signaling depends on ROS produced by NADPH oxidase. The disease course in patients with X-linked CGD is more severe, with recurrent invasive infections; in contrast, patients with non-classic CGD do not present invasive bacterial or fungal infections, but have more prominent inflammatory manifestations. The most frequent gastrointestinal manifestations are stomatitis, gingivitis, chronic diarrhea, liver abscesses that are similar to inflammatory bowel disease (IBD), and granulomas that can cause obstruction or stenosis in the esophagus, stomach or intestine. It has been observed that the deficiency of p40phox and ROS (non-classic CGD) are associated with greater susceptibility to colitis and the development of severe inflammation; therefore, it is presented that these proteins participate in the resolution of inflammation. In general, the inflammatory findings in CGD, including gastrointestinal manifestations, are seldom described. In international cohorts, manifestations that are similar to IBD are reported in up to 58% of patients with CGD; however, in the only Mexican cohort, its finding is described in only 4 out of 93 patients (4.3%). In this review, we summarize the gastrointestinal clinical findings of CGD, including infectious and inflammatory manifestations, emphasizing on the latter.


La enfermedad granulomatosa crónica (EGC) es un error innato de la inmunidad causado por un defecto en uno de los componentes del complejo NADPH oxidasa, responsable de generar especies reactivas de oxígeno (ERO) durante el estallido respiratorio en los fagocitos. La ausencia de ERO producidos por la NADPH oxidasa en los neutrófilos y en los macrófagos produce mayor susceptibilidad a infecciones bacterianas y fúngicas, además de manifestaciones inflamatorias por una respuesta inflamatoria desregulada, lo que sugiere que la capacidad para regular adecuadamente la señalización inflamatoria depende de las ERO derivadas de la NADPH oxidasa. Los pacientes con EGC ligada al cromosoma X tienen un curso de enfermedad más grave con infecciones invasivas recurrentes, a diferencia de los pacientes con EGC no clásica, quienes no presentan infecciones bacterianas o fúngicas invasivas, pero con manifestaciones inflamatorias más prominentes. Las manifestaciones gastrointestinales más frecuentes son estomatitis, gingivitis, diarrea crónica, abscesos hepáticos, similares a las de la enfermedad inflamatoria intestinal (EII) y granulomas, que pueden provocar obstrucción o estenosis en esófago, estómago o intestino. Se ha observado que la deficiencia de p40phox y EROS (EGC no clásica) se asocia a mayor susceptibilidad a colitis y al desarrollo de inflamación severa, por lo que se plantea que estas proteínas participan en la resolución de la inflamación. En general, los hallazgos inflamatorios en la EGC, incluyendo los gastrointestinales, han sido poco descritos. En las cohortes internacionales se reportan manifestaciones similares a EII hasta en 58 % de los pacientes con EGC; en cambio, en la única cohorte mexicana se describe su hallazgo solo en cuatro de 93 pacientes (4.3 %). En esta revisión resumimos los hallazgos clínicos gastrointestinales de la EGC, incluidas las manifestaciones infecciosas e inflamatorias, con énfasis en las últimas.


Asunto(s)
Enfermedad Granulomatosa Crónica , Humanos , Inflamación/etiología , Macrófagos , NADPH Oxidasas , Neutrófilos
16.
Rev Alerg Mex ; 68(2): 144-149, 2021.
Artículo en Español | MEDLINE | ID: mdl-34525787

RESUMEN

INTRODUCTION: Chronic mucocutaneous candidiasis associated with autoimmunity and ectodermal dysplasia is an inborn error of immunity, characterized by a classic triad (chronic mucocutaneous candidiasis, hyperparathyroidism, and adrenal insufficiency) due to the presence of autoantibodies against different endocrine and non-endocrine organs; and it is predominant in Jews and Finns. CASE REPORT: A 7-year-old girl of European descent and positive consanguinity, with a personal history of recurrent respiratory infections, chronic candidiasis, pseudomembranous colitis, and pancytopenia. The clinical findings raised suspicions of an inborn error of immunity, and the accurate diagnosis of APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) was made by detecting a pathogenic variant in the AIRE gene through new- generation sequencing technologies. CONCLUSION: Nowadays, there is access to new genetic tools to establish an early diagnosis of the different inborn errors of immunity; thus, offering timely treatment and a better prognosis.


Introducción: La candidiasis mucocutánea crónica asociada a autoinmunidad y displasia ectodérmica es un error innato de la inmunidad, caracterizado por una triada clásica (candidiasis mucocutánea crónica, hipoparatiroidismo e insuficiencia suprarrenal) debido a la presencia de autoanticuerpos contra diferentes órganos endocrinos y no endocrinos; predomina en judíos y finlandeses. Reporte de caso: Mujer de 7 años de edad de ascendencia europea y consanguinidad positiva, con historia personal de infecciones respiratorias de repetición, candidiasis crónica, colitis pseudomembranosa y pancitopenia. Los hallazgos clínicos hicieron sospechar de un error innato de la inmunidad y el diagnóstico preciso de APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) se realizó al detectar una variante patogénica en el gen AIRE, a través de tecnologías de secuenciación de nueva generación. Conclusión: Hoy en día, se tiene acceso a nuevas herramientas genéticas para establecer el diagnóstico temprano de los diferentes errores innatos de la inmunidad, así se puede ofrecer un tratamiento oportuno y un mejor pronóstico.


Asunto(s)
Candidiasis , Displasia Ectodérmica , Autoinmunidad , Niño , Femenino , Humanos , Mutación , Factores de Transcripción/genética
17.
Rev Alerg Mex ; 67(4): 370-380, 2020.
Artículo en Español | MEDLINE | ID: mdl-33631904

RESUMEN

Chronic granulomatous disease (CGD) is an inborn error of immunity. CGD is characterized by a deficiency in the function of the NADPH oxidase complex. CGD has been an opportunity to study the function of reactive oxygen species (ROS) in the innate immune system. The absence of ROS produced by NADPH oxidase in neutrophils and macrophages leads to an increased susceptibility to bacterial and fungal infections since ROS participate in the elimination of microorganisms. Inflammatory and autoimmune manifestations are also present in CGD; however, the causal connection between the lack of ROS and inflammatory symptoms is not entirely clear. Different in vitro assays have been conducted in humans and clinical trials have been conducted in mice in order to try to understand this relationship. Studies show that ROS react with different molecules of the immune system, either by inhibiting or by stimulating their function, which explains why various inflammation pathways that are not related to each other are affected in CGD; therefore, the described mechanisms of affectation have been diverse, such as a greater production of proinflammatory cytokines, an increase in TH17 lymphocytes, and an alteration in processes like spherocytosis, apoptosis, autophagy, and inflammosome. Understanding the mechanisms that lead to inflammation in the deficiency of the NADPH oxidase complex has led to the proposal of new treatments that act on processes like autophagy, inflammosome, or blocking proinflammatory cytokines. In this review, we describe the different inflammatory manifestations in CGD and the molecular mechanisms through which the lack of ROS leads to hyperinflammation.


La enfermedad granulomatosa crónica (EGC) es un error innato de la inmunidad. Se caracteriza por deficiencia en la función del complejo de la NADPH oxidasa. La EGC ha sido una oportunidad para estudiar la función de las especies reactivas de oxígeno (ROS) en el sistema inmune innato. La ausencia de ROS producidas por la NADPH oxidasa en los neutrófilos y en los macrófagos lleva a mayor susceptibilidad a infecciones bacterianas y fúngicas, debido a que las ROS participan en la eliminación de los microorganismos. Las manifestaciones inflamatorias y autoinmunes también están presentes en la EGC, sin embargo, no es del todo clara la relación de causalidad entre la falta de ROS y los síntomas inflamatorios. Se han realizado diversos ensayos in vitro en humanos y experimentales en ratones para tratar de entender esta relación. Los estudios muestran que las ROS reaccionan con diferentes moléculas del sistema inmune, inhibiendo o estimulando su función, lo que explica que en la EGC se afecten varias vías de la inflamación que no están relacionadas entre sí; por lo tanto, han sido diversos los mecanismos de afectación descritos, como por ejemplo una mayor producción de citocinas proinflamatorias, un incremento en los linfocitos TH17 y una alteración en procesos como eferocitosis, apoptosis, autofagia e inflamasoma. El entendimiento de los mecanismos que llevan a la inflamación en la deficiencia del complejo de la NADPH oxidasa ha llevado a plantear nuevos tratamientos que actúan en procesos como la autofagia, el inflamosoma o el bloqueo de citocinas proinflamatorias. En esta revisión describimos las diferentes manifestaciones inflamatorias en EGC y los mecanismos moleculares a través de los cuales la falta de ROS conduce a la hiperinflamación.


Asunto(s)
Enfermedad Granulomatosa Crónica , Animales , Enfermedad Granulomatosa Crónica/genética , Macrófagos , Ratones , NADPH Oxidasas/genética , Neutrófilos , Especies Reactivas de Oxígeno
18.
ACG Case Rep J ; 6(10): e00246, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31832472

RESUMEN

Phlegmonous gastritis (PG) is a rare and severe infection, with less than 500 cases reported. Similarly, Good syndrome represents a rare adult-onset immunodeficiency with a prevalence of 1 in 500,000 people. We present the first case of a patient with Good syndrome complicated with PG. Given that up to 50% of patients with PG do not have an identified risk factor, underlying immunodeficiencies should be conscientiously investigated.

19.
Nutr. hosp ; 38(3)may.-jun. 2021. tab, ilus
Artículo en Inglés | IBECS (España) | ID: ibc-224392

RESUMEN

Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2). Compared with adults, children with SARS-CoV-2 infection may have fewer and less severe symptoms. Gastrointestinal symptoms are commonly reported in children, sometimes as the only manifestation of the disease, and most often manifest as anorexia, diarrhea, nausea and vomiting, or abdominal pain. Although most children have asymptomatic or mild disease, 10 % of those infected may experience serious or critical disease, or even death. Multisystem inflammatory syndrome is a rare but serious condition recently reported in children with COVID-19. Studies indicate that children with obesity are at higher risk of developing severe COVID-19, and inflammation associated with obesity could be one of the factors that worsens COVID-19 symptoms due to an increased inflammatory response involving molecules such as interleukin 6, tumor necrosis factor alpha, and monocyte chemoattractant protein. On the other hand, evidence has been reported of a higher protein expression of ACE2 in the visceral adipose tissue of obese and malnourished humans, and this could be associated with complications and severity of COVID-19. Therefore, regulation of the intake of macronutrients or micronutrients could be used as a strategy to reduce the consequences of COVID-19. Diet in general and bioactive compounds could play an important role in the prevention of the inflammatory cascade. The micronutrients with the most evidence suggesting a role in immune support are vitamins C and D, zinc, and polyphenols. (AU)


La enfermedad por coronavirus 2019 (COVID-19) está causada por el virus "síndrome respiratorio agudo severo-coronavirus 2" (SARS-CoV-2). En comparación con los adultos, los niños con infección por SARS-CoV-2 pueden tener menos síntomas y estos pueden ser menos graves. Los síntomas gastrointestinales se informan comúnmente en los niños, a veces como única manifestación de la enfermedad. Los más comunes son anorexia, diarrea, náuseas y vómitos, y dolor abdominal. Aunque la mayoría de los niños tienen un cuadro leve o asintomático, el 10 % de los infectados pueden experimentar un cuadro grave o crítico, e incluso la muerte. El síndrome inflamatorio multisistémico es una afección poco común, pero grave, que se documentó recientemente en niños con COVID-19. Los estudios indican que los niños con obesidad tienen mayor riesgo de desarrollar COVID-19 grave, y la inflamación asociada con la obesidad podría ser uno de los factores que empeoran los síntomas de la COVID-19 debido a una respuesta inflamatoria aumentada en donde se ven involucradas moléculas como la interleucina 6, el factor de necrosis tumoral alfa y la proteína quimioatrayente de monocitos. Por otro lado, se ha encontrado evidencia de una mayor expresión proteica de ACE2 en el tejido adiposo visceral de los seres humanos obesos y desnutridos, y esto podría estar asociado a las complicaciones y la severidad de la COVID-19. Por tanto, la regulación de la ingesta de macronutrientes o micronutrientes podría utilizarse como estrategia para reducir las consecuencias de la enfermedad. La dieta en general y los compuestos bioactivos podrían desempeñar un papel importante en la prevención de la cascada inflamatoria. Los micronutrientes con mayor evidencia indicativa de que desempeñan un papel en el apoyo inmunológico son las vitaminas C y D, el zinc y los polifenoles. (AU)


Asunto(s)
Humanos , Masculino , Femenino , Niño , Pandemias , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/complicaciones , Obesidad Infantil , Ciencias de la Nutrición , Coronavirus Relacionado al Síndrome Respiratorio Agudo Severo , Estrés Oxidativo , Enfermedades Gastrointestinales , Delgadez
20.
Am J Infect Control ; 42(1): 82-3, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24176606

RESUMEN

Stethoscopes can take part in the transmission of health care-associated infections. We cultured 112 stethoscopes by direct imprint on blood agar to estimate the prevalence of potentially pathogenic microorganisms. Forty-eight (47%) produced 50 potentially pathogenic microorganisms; from these, 43 (86%) were Staphylococcus aureus, of which 18 (42%) were methicillin-resistant S. aureus. We concluded that stethoscopes should be considered as potential fomites and must be disinfected routinely before and after each patient contact.


Asunto(s)
Bacterias/aislamiento & purificación , Estetoscopios/microbiología , Estudios Transversales , Humanos , Control de Infecciones/métodos , Proyectos Piloto , Prevalencia
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