Results 11 to 20 of about 37,007 (288)

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   +16 more sources

Carbon Nanotubes and Chronic Granulomatous Disease [PDF]

Nanomaterials, 2014
Use of nanomaterials in manufactured consumer products is a rapidly expanding industry and potential toxicities are just beginning to be explored.
Barbara P. Barna, Marc A. Judson, Mary Jane Thomassen   +2 more
doaj   +3 more sources

Immunopathogenesis of canine chronic ulcerative stomatitis. [PDF]

, 2020
Canine Chronic Ulcerative Stomatitis is a spontaneously occurring inflammatory disease of the oral mucosa. An immune-mediated pathogenesis is suspected though not yet proven.
Anderson, JG, Bizikova, P, Ford, K, Jimenez, RJ, Kol, A, Murphy, BG, Stapelton, BP, Vasilatis, D, Villarreal, A   +8 more
core   +1 more source

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

Clinic manifestations in granulomatosis with polyangiitis [PDF]

, 2016
Granulomatosis with polyangiitis (GPA), formerly Wegener's granulomatosis (WG), is an uncommon immunologically mediated systemic small-vessel vasculitis that is pathologically characterised by an inflammatory reaction pattern (necrosis, granulomatous ...
De Vincentiis, Marco, De Virgilio, Armando, Fusconi, Massimo, Gallo, Andrea, Greco, Antonio, Macri, Gian Franco, Marinelli, Caterina, Zambetti, Giampietro   +7 more
core   +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

Chronic granulomatous disease [PDF]

Clinical and Experimental Immunology, 2000
A clinical syndrome characterized by recurrent life-threatening Staphylococcus aureus, Proteus or Pseudomonas, hypergammaglobulinaemia, and widespread chronic granulomatous infiltration was first recognized in the paediatric literature between 1954 and 1960 [1–3].
Adrian J. Thrasher, David Goldblatt
openaire   +2 more sources

Recognition and Clinical Presentation of Invasive Fungal Disease in Neonates and Children [PDF]

, 2017
AW and JK are supported by the Wellcome Trust Strategic Award (grant 097377) and the MRC Centre for Medical Mycology (grant MR/N006364/1) at the University of AberdeenPeer reviewedPublisher ...
King, Jill, Lehrnbecher, Thomas, Pana, Zoi-Dorothea, Steinbach, William J., Warris, Adilia   +4 more
core   +1 more source

Chronic granulomatous disease [PDF]

Pediatric Radiology, 2010
Chronic granulomatous disease (CGD) is a rare congenital immunodeficiency characterized by recurrent bacterial and fungal infections as well as granuloma formation. The manifestations of this disease can involve single or multiple organ systems. The lungs are the most commonly affected organ; however, lymphatic, hepatic, skeletal, gastrointestinal ...
Alexander J. Towbin, Ian J. Chaves
openaire   +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