RESUMEN
Introduction: Chronic granulomatous disease (CGD) is a disorder of phagocyte function, characterized by pyogenic infections and granuloma formation caused by defects in NADPH oxidase complex activity. Although the effect of CGD mainly reflects the phagocytic compartment, B cell responses are also impaired in patients with CGD. Materials and methods: Flow cytometric analysis was performed on peripheral blood samples from 35 CGD patients age-matched with healthy controls (HC). The target cells of our study were the naive (IgD+/CD27-), memory (IgD-/CD27+), and B1a (CD5+) cells. Immunoglobulins (Igs) were also measured. This study was performed in a Latin American cohort. Results: We found significantly higher levels of naive B cells and B1a cells, but lower levels of memory B cells were found in CGD patients compared to HC. There was no significant difference of cell percentages per inheritance type. Discussion: Our findings suggest that the deficiency of NADPH oxidase components can affect the differentiation of naive B cells to memory B cells. Consequently, memory cells will be low, which also influenced the expression of CD27 in memory B cells and as a result, the percentage of naive cells increases. An altered phenotype of B lymphocytes in CGD patients may contribute to the opportunistic infections and autoimmune disorders that are seen in this disease
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Asunto(s)
Humanos , Masculino , Femenino , Lactante , Preescolar , Niño , Adolescente , Adulto Joven , Adulto , Linfocitos B/inmunología , Subgrupos de Linfocitos B/inmunología , Enfermedad Granulomatosa Crónica/inmunología , NADPH Oxidasa 2/genética , Separación Celular , Estudios de Cohortes , Citometría de Flujo , Enfermedad Granulomatosa Crónica/genética , Memoria Inmunológica , México , Miembro 7 de la Superfamilia de Receptores de Factores de Necrosis Tumoral/metabolismoRESUMEN
INTRODUCTION: Chronic granulomatous disease (CGD) is a disorder of phagocyte function, characterized by pyogenic infections and granuloma formation caused by defects in NADPH oxidase complex activity. Although the effect of CGD mainly reflects the phagocytic compartment, B cell responses are also impaired in patients with CGD. MATERIALS AND METHODS: Flow cytometric analysis was performed on peripheral blood samples from 35 CGD patients age-matched with healthy controls (HC). The target cells of our study were the naive (IgD+/CD27-), memory (IgD-/CD27+), and B1a (CD5+) cells. Immunoglobulins (Igs) were also measured. This study was performed in a Latin American cohort. RESULTS: We found significantly higher levels of naive B cells and B1a cells, but lower levels of memory B cells were found in CGD patients compared to HC. There was no significant difference of cell percentages per inheritance type. DISCUSSION: Our findings suggest that the deficiency of NADPH oxidase components can affect the differentiation of naive B cells to memory B cells. Consequently, memory cells will be low, which also influenced the expression of CD27 in memory B cells and as a result, the percentage of naive cells increases. An altered phenotype of B lymphocytes in CGD patients may contribute to the opportunistic infections and autoimmune disorders that are seen in this disease.
Asunto(s)
Subgrupos de Linfocitos B/inmunología , Linfocitos B/inmunología , Enfermedad Granulomatosa Crónica/inmunología , NADPH Oxidasa 2/genética , Adolescente , Adulto , Separación Celular , Niño , Preescolar , Estudios de Cohortes , Femenino , Citometría de Flujo , Enfermedad Granulomatosa Crónica/genética , Humanos , Memoria Inmunológica , Inmunofenotipificación , Lactante , Masculino , México , Miembro 7 de la Superfamilia de Receptores de Factores de Necrosis Tumoral/metabolismo , Adulto JovenRESUMEN
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Asunto(s)
Humanos , Masculino , Femenino , Niño , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Anciano , Enfermedad Granulomatosa Crónica/diagnóstico , Lupus Eritematoso Discoide/diagnóstico , Tamización de Portadores Genéticos/métodos , México/epidemiología , Genes Ligados a X/genética , Evaluación de Síntomas/métodos , Autoinmunidad/inmunologíaRESUMEN
BACKGROUND: There are two inheritance patterns, the X-linked recessive (XL) pattern and the autosomal recessive pattern. There is no information on the predominant inheritance pattern of male patients with chronic granulomatous disease (CGD) in Mexico. OBJECTIVE: The aim of this study was to determine the inheritance pattern in a cohort of Mexican male patients with CGD by means of the detection of an XL status carrier among their female relatives, and to describe the frequency of discoid lupus (DL) among carriers. METHODS: We detected the female relatives within the families of male patients with CGD, and carried out the 123 dihydrorhodamine (DHR) assay in all female participants. All carriers were questioned for current or past established DL diagnosis. RESULTS: We detected 33 families with one or more CGD male patients; we found an XL-CGD in 79% of the relatives from at least one female relative with a bimodal pattern. For the remaining seven relatives we were not able to confirm a carrier status by means of a DHR assay. Moreover, we detected one mother with CGD secondary to skewed X-chromosome inactivation. We also found 47 carriers, and only one carrier with DL among them. CONCLUSION: We concluded that XL-CGD is the most frequent form of CGD in a cohort of CGD male patients in Mexico. DHR assay is a fast and practical tool to determine the CGD form in the Latin-American countries. Finally, DL frequency in Mexico is lower than that reported in the literature for other regions of the world
No disponible
Asunto(s)
Humanos , Enfermedad Granulomatosa Crónica/genética , Lupus Eritematoso Discoide/epidemiología , Portador Sano , México/epidemiología , Marcadores GenéticosRESUMEN
BACKGROUND: There are two inheritance patterns, the X-linked recessive (XL) pattern and the autosomal recessive pattern. There is no information on the predominant inheritance pattern of male patients with chronic granulomatous disease (CGD) in Mexico. OBJECTIVE: The aim of this study was to determine the inheritance pattern in a cohort of Mexican male patients with CGD by means of the detection of an XL status carrier among their female relatives, and to describe the frequency of discoid lupus (DL) among carriers. METHODS: We detected the female relatives within the families of male patients with CGD, and carried out the 123 dihydrorhodamine (DHR) assay in all female participants. All carriers were questioned for current or past established DL diagnosis. RESULTS: We detected 33 families with one or more CGD male patients; we found an XL-CGD in 79% of the relatives from at least one female relative with a bimodal pattern. For the remaining seven relatives we were not able to confirm a carrier status by means of a DHR assay. Moreover, we detected one mother with CGD secondary to skewed X-chromosome inactivation. We also found 47 carriers, and only one carrier with DL among them. CONCLUSION: We concluded that XL-CGD is the most frequent form of CGD in a cohort of CGD male patients in Mexico. DHR assay is a fast and practical tool to determine the CGD form in the Latin-American countries. Finally, DL frequency in Mexico is lower than that reported in the literature for other regions of the world.
Asunto(s)
Cromosomas Humanos X/genética , Enfermedad Granulomatosa Crónica/genética , Patrón de Herencia , Lupus Eritematoso Discoide/genética , Rodaminas , Separación Celular , Estudios de Cohortes , Femenino , Citometría de Flujo/métodos , Pruebas Genéticas , Enfermedad Granulomatosa Crónica/diagnóstico , Heterocigoto , Humanos , Patrón de Herencia/genética , Lupus Eritematoso Discoide/diagnóstico , Masculino , México , LinajeRESUMEN
Se determinaron anticuerpos anticardiolipina (aAC) por el método de ELISA en 112 sueros de pacientes en edad pediátrica (un mes a diez y siete años), de ambos sexos, que acudieron a su toma de muestras de los servicios de ortopedia, oftalmología y cirugía del Instituto Nacional de Pediatría, para someterse a una cirugía menor, en quienes se descartó algún problema autoinmune o infeccioso. También se incluyeron 13 sueros de pacientes positivos para aAC que padecían el síndrome antifosfolípido, sueros controles positivos y negativos valorados en el Instituto Nacional de la Nutrición y un pool de sueros preparados con 50 muestras de los 112 sujetos antes mencionados. El valor de corte o negatividad para los sueros normales se obtuvo conforme la indica Loizou y col. aumentando cinco desviaciones estándares (1 DS = 0.1890, 5 DS = 0.9450) al valor promedio de las absorbencias (X = 0.4049) obtenidas de los 112 sujetos sanos, quedando un valor de 1.3499 (0.4049 + 0.9450)