Publications by authors named "N Ramirez-Uribe"
Article Synopsis
- The study focuses on DOCK8 deficiency (DOCK8-Def), detailing the clinical, immunological, and genetic traits of affected patients.
- A review of 11 patients revealed that all exhibited eczema and recurrent infections, with common issues including bronchiectasis and food allergies, while some experienced rare complications like tuberculosis and neurological syndromes.
- The research emphasizes the importance of early diagnosis of DOCK8-Def, as it can lead to better treatment options such as hematopoietic stem cell transplantation (HSCT).
Article Synopsis
- * The study, involving 13 hospitals, found that the majority of patients (88%) were male, all experienced bacterial infections, and 30% had fungal infections; complications related to the BCG vaccine occurred in 58% of vaccinated patients.
- * Genetic analysis revealed X-linked CGD was most common, with 89% diagnosed biologically and 89% genetically; notable findings include a significant presence of CYBA and NCF2 mutations,
Severe combined immunodeficiency (SCID) represents the most lethal form of primary immunodeficiency, with mortality rates of greater than 90% within the first year of life without treatment. Hematopoietic stem cell transplantation and gene therapy are the only curative treatments available, and the best-known prognostic factors for success are age at diagnosis, age at hematopoietic stem cell transplantation, and the comorbidities that develop in between. There are no evidence-based guidelines for standardized clinical care for patients with SCID during the time between diagnosis and definitive treatment, and we aim to generate a consensus management strategy on the supportive care of patients with SCID.
View Article and Find Full Text PDFThe incidence of chronic granulomatous disease in international reports is 1:250,000; however, in Mexico it is unknown. At the National Institute of Pediatrics of Mexico a project for facilitating the diagnosis of the disease was implemented by us in 2009. From the start of such project up to date 68 cases have been studied; 80% of those are X-linked forms (LX) and moreover, it has become noticeable the diagnosis at a younger age.
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