Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease

ConclusionsThe 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 ofCYBA andNCF2 mutations were identified, expanding the spectrum of known causal mutations.
Source: Journal of Clinical Immunology - Category: Allergy & Immunology Source Type: research

Related Links:

On March 27, 2020, Congress passed the “Coronavirus Aid, Relief, and Economic Security Act” or “CARES Act,” the largest economic stimulus package in U.S. history to address economic impacts of the ongoing coronavirus pandemic. President Trump signed the measure on the same day. The $2 trillion stimulus package includes economic relief measures to help individuals, small businesses, and “severely distressed” industry sectors deal with the impacts of the outbreak. Funds are also provided to support coronavirus-related research. The legislation provides $4.3 billion to the Centers for Dis...
Source: Public Policy Reports - Category: Biology Authors: Source Type: news
A group of 100 research societies, professional organizations, and universities has urged President Trump to lift the ban on federally funded research using human fetal tissue in response to the novel coronavirus pandemic. The groups argued that the restrictions would delay medical research that could lead to new treatments and vaccines for COVID-19. The letter reads, in part: “The world is facing an unprecedented public health threat that, by some estimates, could claim the lives of over a million Americans. While there are promising treatments in development, we will not know whether these treatments are safe and ...
Source: Public Policy Reports - Category: Biology Authors: Source Type: news
The White House Office of Science and Technology Policy (OSTP) has extended the comment period for its request for information on open access publishing. The deadline to submit comments is now April 6, 2020. With this solicitation, the OSTP is requesting recommendations on approaches for ensuring broad public access to the peer-reviewed scholarly publications, data, and code that result from federally funded scientific research. Details about the submission process can be found at: The National Academies of Sciences, Engineering, and Medicine (NASEM)...
Source: Public Policy Reports - Category: Biology Authors: Source Type: news
Publication date: Available online 29 March 2020Source: Colloids and Surfaces A: Physicochemical and Engineering AspectsAuthor(s): Mirla Anali Bazán Henostroza, Katherine Jasmine Curo Melo, Megumi Nishitani Yukuyama, Raimar Löbenberg, Nádia Araci Bou-Chacra
Source: Colloids and Surfaces A: Physicochemical and Engineering Aspects - Category: Chemistry Source Type: research
ObjectiveGenetic variants in the region of tumor necrosis factor –induced protein 3–interacting protein 1 (TNIP1) are associated with autoimmune disease and reducedTNIP1 gene expression. The aim of this study was to define the functional genetic mechanisms drivingTNIP1 hypomorphic expression imparted by the systemic lupus erythematosus –associatedTNIP1 H1 risk haplotype.MethodsDual luciferase expression and electrophoretic mobility shift assays were used to evaluate the allelic effects of 11 risk variants on enhancer function and nuclear protein binding in immune cell line models (Epstein ‐Barr virus [E...
Source: Arthritis and Rheumatology - Category: Rheumatology Authors: Tags: Original Article Source Type: research
Funding Opportunity RFA-AI-20-020 from the NIH Guide for Grants and Contracts. The purpose of this FOA is to support the establishment of multidisciplinary Tuberculosis (TB) Research Units (TBRUs) that will operate as a collaborative network to improve understanding of Mycobacterium tuberculosis (Mtb)-host interactions through characterization of bacterial and host determinants that are relevant during stages of infection and disease, and analyses of bacterial and host heterogeneity on disease outcomes.
Source: NIH Funding Opportunities (Notices, PA, RFA) - Category: Research Source Type: funding
Authors: Walker SM, Cox E, Revill P, Musiime V, Bwakura-Dangarembizi M, Mallewa J, Cheruiyot P, Maitland K, Ford N, Gibb DM, Walker AS, Soares M, REALITY trial team Abstract INTRODUCTION: Many HIV-positive individuals in Africa have advanced disease when initiating antiretroviral therapy (ART) so have high risks of opportunistic infections and death. The REALITY trial found that an enhanced-prophylaxis package including fluconazole reduced mortality by 27% in individuals starting ART with CD4
Source: Journal of the International AIDS Society - Category: Infectious Diseases Tags: J Int AIDS Soc Source Type: research
Condition:   Hepatitis B Intervention:   Biological: Hepatitis B recombinant vaccine Sponsor:   Pontificia Universidad Catolica de Chile Not yet recruiting
Source: - Category: Research Source Type: clinical trials
Conditions:   HIV Infections;   Clinical Outcomes;   Adverse Drug Event;   Effect of Drugs Intervention:   Other: No intervention Sponsors:   Fundação Bahiana de Infectologia;   University of New Mexico;   Instituto Infectologia Evandro Chagas, Rio de Janeiro;   Instituto de Infectologia Emilio Ribas, S. Paulo;   Instituto de Medicina Tropical de Manaus;   Hospital da Clinicas de Porto Alegre;   Centro ...
Source: - Category: Research Source Type: clinical trials
In these unprecedented times, America ’s biopharmaceutical companies are coming together to achieve one shared goal: to combat COVID-19, a disease caused by a novel strain of coronavirus. Our companies are working around the clock toresearch and develop new vaccines and treatments, as well as testing existing medicines to help those infected with the virus. In addition, our companies are committed to supporting health care workers who are on the frontlines and communities around the world affected by COVID-19.
Source: The Catalyst - Category: Pharmaceuticals Tags: Research and Development PhRMA Member Company Clinical Trials Infectious Diseases Coronavirus Source Type: news
More News: Allergy & Immunology | Autoimmune Disease | Endemics | Fungal Infections | Genetics | Mexico Health | Primary Immunodeficiency Disease | Study | Tuberculosis | Tuberculosis (BCG) Vaccine | Vaccines