Results 11 to 20 of about 5,872,061 (285)

Chronic granulomatous disease: the European experience. [PDF]

PLoS ONE, 2009
CGD is an immunodeficiency caused by deletions or mutations in genes that encode subunits of the leukocyte NADPH oxidase complex. Normally, assembly of the NADPH oxidase complex in phagosomes of certain phagocytic cells leads to a "respiratory burst ...
J Merlijn van den Berg, Elsbeth van Koppen, Anders Ahlin, Bernd H Belohradsky, Ewa Bernatowska, Lucien Corbeel, Teresa Español, Alain Fischer, Magdalena Kurenko-Deptuch, Richard Mouy, Theoni Petropoulou, Joachim Roesler, Reinhard Seger, Marie-José Stasia, Niels H Valerius, Ron S Weening, Baruch Wolach, Dirk Roos, Taco W Kuijpers   +18 more
doaj   +3 more sources

Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis

Emerging Infectious Diseases, 2019
Granulibacter bethesdensis is a pathogen reported to cause recurrent lymphadenitis exclusively in persons with chronic granulomatous disease. We report a case of fatal meningitis caused by a highly virulent G.
Mafalda Rebelo, Li Ding, Ana Isabel Cordeiro, Conceição Neves, Maria João Simões, Adrian M. Zelazny, Steven M. Holland, João Farela Neves   +7 more
doaj   +2 more sources

Preventing Chronic Disease (PCD) [PDF]

This collection of articles in Preventing Chronic Disease (PCD) brings together scientists and practitioners from the breadth of public health and the social sciences to demonstrate how geospatial perspectives can contribute to understanding and ...

core   +11 more sources

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

Clinical observation of Сhronic granulomatous disease in a 6-year-old child

Детские инфекции (Москва), 2020
Chronic granulomatous disease (CGD) is a hereditary disease caused by a genetic defect of violations of oxygen — dependent mechanisms of phagocytosis.
G. A. Kharchenko, O. G. Kimirilova
doaj   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Case report: HLA-haploidentical HSCT rescued with donor lymphocytes infusions in a patient with X-linked chronic granulomatous disease

Frontiers in Immunology, 2023
Chronic granulomatous disease is an inborn error of immunity due to disrupted function of the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex.
Julia Scheiermann, Julia Scheiermann, Annette Künkele, Annette Künkele, Annette Künkele, Annette Künkele, Arend von Stackelberg, Angelika Eggert, Angelika Eggert, Angelika Eggert, Angelika Eggert, Peter Lang, Peter Lang, Felix Zirngibl, Luise Martin, Johannes Hubertus Schulte, Johannes Hubertus Schulte, Johannes Hubertus Schulte, Johannes Hubertus Schulte, Horst von Bernuth, Horst von Bernuth, Horst von Bernuth, Horst von Bernuth   +22 more
doaj   +1 more source

FAMILIAL CHRONIC GRANULOMATOUS DISEASE

Pakistan Armed Forces Medical Journal, 2019
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytes, characterized by repeated bacterial and fungal infections.
Tariq Ghafoor, Farrah Bashir
doaj   +4 more sources

Chronic Granulomatous Disease: the Experience of Diagnosis and Treatment in Children

Zdorovʹe Rebenka, 2013
Chronic granulomatous disease — primary immunodeficiency with X-linked and autosomal recessive inheritance, characterized by impaired bactericidal function of phagocytic immune system.
L.I. Chernyshova, A.P. Volokha, A.V. Bondarenko, A.M. Gilfanova, V.P. Chernyshov   +4 more
doaj   +1 more source

Chronic Granulomatous Disease Presenting with Salmonella Brain Abscesses. [PDF]

, 2014
Chronic granulomatous disease is a rare primary immunodeficiency caused by phagocytic cell defect. We describe the case of 43-month-old boy with chronic granulomatous disease presenting with Salmonella spp brain abscesses, together with a review of ...
Finocchi A, Claps A, Serafinelli J, Salfa I, Longo D, Di Matteo G, Aiuti A, Rossi P
core   +2 more sources