التفاصيل البيبلوغرافية
| العنوان: |
Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospital ; Descripción clínica y genética de pacientes con enfermedad granulomatosa crónica en un hospital pediátrico |
| المؤلفون: |
Berriozabal-Villarruel , Xareni, Godínez-Zamora , Guadalupe Fernanda, Baeza-Capetillo , Patricia, Pérez-Blanco, Uriel, Espinosa -Padilla , Sara Elva, Aguirre-Hernández , Jesús, Blancas-Galicia, Lizbeth, Saucedo-Ramírez, Omar Josué |
| المصدر: |
Biomedica; Vol. 44 No. Sp. 2 (2024): Inmunología clínica, publicación anticipada ; Biomédica; Vol. 44 Núm. Sp. 2 (2024): Inmunología clínica, publicación anticipada ; 2590-7379 ; 0120-4157 |
| بيانات النشر: |
Instituto Nacional de Salud |
| سنة النشر: |
2024 |
| المجموعة: |
Biomédica - Revista del Instituto Nacional de Salud, Bogotá |
| مصطلحات موضوعية: |
Chronic granulomatous disease, CYBB, NCF1, seguimiento, vacuna de Bacilos de Calmette Guerin, Enfermedad granulomatosa crónica, follow-up study, Bacillus, Calmette Guerin vaccine |
| الوصف: |
Introduction. Chronic granulomatous disease (CGD) is a congenital immune disorder characterized by increased susceptibility to fungal and bacterial infections and dysregulated inflammation. It is caused by defects in NADPH oxidase and EROS protein. Objective. To describe the clinical and genetic characterization of a cohort of patients with CGD at the Federico Gomez Children's Hospital of Mexico.Materials and methods. Patients diagnosed with CGD by the dihydrorhodamine oxidase technique were molecularly and genetically characterized by measuring the expression of the affected NADPH oxidase subunit and by sequencing and analyzing their exome. The different clinical variables were obtained from the clinical files, and each case was described.Results. We describe four patients with CGD, three with a pathogenic variant in CYBB and one with absence of p47phox expression. The three mothers of the three patients with CYBB mutation were carriers. All three cases with CYBB had severe and recurrent infections in addition to BCG infection as initial manifestation. The autosomal recessive case due to p47phox deficiency was the mildest in terms of severity. One of the patients with CYBB manifestation had deletion of several contiguous genes associated with poor prognosis. None of the patients received hematopoietic progenitor cell transplantation.Conclusions. In this Mexican cohort, CGD secondary to pathogenic variants in CYBB is the most common. Carrier mothers should be followed clinically because of the potential risk of inflammatory, autoimmune, and infectious manifestations. One of the first manifestations is BCG infection, and in countries such as Mexico, where this vaccine is administered, cases with this type of adverse reaction should be evaluated to rule out CGD. ; Introducción. La enfermedad granulomatosa crónica (EGC) es un error innato de la inmunidad caracterizado por aumento en la susceptibilidad de desarrollar infecciones por hongos y bacterias e inflamación no regulada. Se produce por defectos en la NADPH ... |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
Spanish; Castilian |
| Relation: |
https://revistabiomedica.org/index.php/biomedica/article/view/7565/5635; https://revistabiomedica.org/index.php/biomedica/article/view/7565 |
| الاتاحة: |
https://revistabiomedica.org/index.php/biomedica/article/view/7565 |
| Rights: |
Derechos de autor 2024 Biomédica ; https://creativecommons.org/licenses/by/4.0 |
| رقم الانضمام: |
edsbas.A04E78D8 |
| قاعدة البيانات: |
BASE |