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Novel CYBA mutation in a family with BCGitis.
Acta Microbiol Immunol Hung
December 2019
Research Center for Immunodeficiencies (RCID), Children's Medical Center, Tehran University of Medical Sciences, Tehran,Iran.
Article Synopsis
- Chronic granulomatous disease is a rare genetic disorder caused by mutations in genes that help the immune system fight infections.
- A family was studied where a 5-year-old girl had this disease due to a specific mutation in the CYBA gene, which affects a protein important for immune function.
- Surprisingly, other family members with the same gene mutation showed only mild symptoms like swollen lymph nodes, suggesting that different parts of the gene might cause different symptoms.
Beverly Murphy, AHIP, FMLA, Medical Library Association President, 2018-2019.
J Med Libr Assoc
October 2018
Director of Libraries, Medical University of South Carolina, Charleston, SC.
When I think of Beverly Murphy, AHIP, FMLA, three words come to mind: Bold, Brave, Brilliant. In every action that Beverly has undertaken as a health sciences librarian, she has demonstrated an innate ability to just "Be." Being bold, brave, and brilliant is just what she will need to be as the Medical Library Association's first African-American president since the association's founding in 1898.
View Article and Find Full Text PDFXenobiotic Receptor-Mediated Regulation of Intestinal Barrier Function and Innate Immunity.
Nucl Receptor Res
January 2016
Departments of Medicine and Genetics, The Albert Einstein College of Medicine, 1300 Morris Park Ave, Bronx, NY 10461, USA.
The molecular basis for the regulation of the intestinal barrier is a very fertile research area. A growing body of knowledge supports the targeting of various components of intestinal barrier function as means to treat a variety of diseases, including the inflammatory bowel diseases. Herein, we will summarize the current state of knowledge of of barrier function, highlighting recent advances, such that the field and its future are succinctly reviewed.
View Article and Find Full Text PDFMicrobial control of intestinal innate immunity.
Oncotarget
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Departments of Medicine and Genetics, The Albert Einstein College of Medicine, Bronx, NY, USA.
The brave new world of innate lymphoid cells.
Nat Immunol
January 2015
Centre d'Immunologie de Marseille-Luminy, Aix-Marseille University UM2, Inserm U1104, CNRS UMR7280, Marseille, France, and the Assistance Publique-Hôpitaux de Marseille, Marseille, France.
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