Publications by authors named "Cesar Mauricio Rojas-Maruri"
Background: Gastric non-Helicobacter pylori helicobacters (NHPH) naturally colonize the stomach of animals. In humans, infection with these bacteria is associated with chronic active gastritis, peptic ulceration and MALT-lymphoma. H.
View Article and Find Full Text PDFIs Your Kid Actin Out? A Series of Six Patients With Inherited Actin-Related Protein 2/3 Complex Subunit 1B Deficiency and Review of the Literature.
J Allergy Clin Immunol Pract
April 2023
Article Synopsis
- Hereditary actin-related protein 2/3 complex subunit 1B deficiency leads to various health issues like recurrent infections, asthma, eczema, and bleeding, as seen in six patients from four Mexican families studied.
- The patients exhibited a mix of symptoms, including high levels of certain immunoglobulins and platelet abnormalities, with genetic testing revealing notable variants in some and identifying similar cases in other reports.
- The study highlights the diverse clinical manifestations of this deficiency, contributing new insights such as keloid scars and a potential genetic link between families due to a novel deletion in a specific gene region.
Tumor necrosis factor receptor-associated factor 3 (TRAF3) is a central regulator of immunity. TRAF3 is often somatically mutated in B cell malignancies, but its role in human immunity is not defined. Here, in five unrelated families, we describe an immune dysregulation syndrome of recurrent bacterial infections, autoimmunity, systemic inflammation, B cell lymphoproliferation, and hypergammaglobulinemia.
View Article and Find Full Text PDFIntroduction: 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.