Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)

Autor: Amber Begtrup, Mohammad Shahrooei, Deniz Cagdas, Douglas B. Kuhns, Juan Luis Valdivieso Shephard, Nezihe Köker, Joachim Roesler, Amy P. Hsu, Marie José Stasia, Antonio Condino-Neto, Harry L. Malech, Jacinta Bustamante, Esmaeil Mortaz, Ilhan Tezcan, Pandiarajan Vignesh, Baruch Wolach, Dirk Roos, María Bravo García-Morato, Marianne Antonius Jakobsen, Steven M. Holland, Roya Sherkat, Rhonda Brandon, Hirokazu Kanegane, Mauno Vihinen, Faris G. Bakri, Lizbeth Blancas-Galicia, Abbas Fayezi, Amit Rawat, Karin van Leeuwen, John I. Gallin, Toshinao Kawai, M. Yavuz Köker, Christa S. Zerbe, Martin de Boer, Manesha Madkaikar, Debra A. Long Priel

Publikováno v: Roos, D, van Leeuwen, K, Hsu, A P, Priel, D L, Begtrup, A, Brandon, R, Rawat, A, Vignesh, P, Madkaikar, M, Stasia, M J, Bakri, F G, de Boer, M, Roesler, J, Köker, N, Köker, M Y, Jakobsen, M, Bustamante, J, Garcia-Morato, M B, Shephard, J L V, Cagdas, D, Tezcan, I, Sherkat, R, Mortaz, E, Fayezi, A, Shahrooei, M, Wolach, B, Blancas-Galicia, L, Kanegane, H, Kawai, T, Condino-Neto, A, Vihinen, M, Zerbe, C S, Holland, S M, Malech, H L, Gallin, J I & Kuhns, D B 2021, ' Hematologically important mutations : The autosomal forms of chronic granulomatous disease (third update) ', Blood Cells, Molecules and Diseases, vol. 92, 102596 . https://doi.org/10.1016/j.bcmd.2021.102596
Blood Cells, Molecules and Diseases
Blood Cells, Molecules and Diseases, 2021, 92, pp.102596. ⟨10.1016/j.bcmd.2021.102596⟩
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
Blood Cells, Molecules and Diseases, Elsevier, 2021, 92, pp.102596. ⟨10.1016/j.bcmd.2021.102596⟩
Blood cells, molecules & diseases, 92:102596. Academic Press Inc.

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the com

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66515d90754a8c45dd3a9481543bb57
https://pubmed.ncbi.nlm.nih.gov/34547651

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

Autor: Atar Lev, Helly Vernitsky, Raz Somech, Gideon Rechavi, Maria Papazian, Tali Stauber, Ninette Amariglio, Deborah Yablonski, Sarina Levy-Mendelovich, Amos J. Simon, Baruch Wolach, Neta Shwartz, Ido Somekh, Yuan Zhang, Ayal Hendel, Ronit Gavrieli, Guangping Sun, Yu Nee Lee, Elisheva Javasky, Tal Beit Halevi, Shiran Levy, Chi Ma, Ortal Barel, Joshua D. Milner, Keren S Zrihen, Enas Hallumi

Publikováno v: The Journal of Experimental Medicine

SLP76 is a key molecule involved in the T cell signaling pathway; therefore, SLP76 deficiency can lead to a severe type of immunodeficiency. By reporting on a patient with germline mutation in SLP76, deficiency in this gene is linked, for the first t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8819a366a121400f90b9d039dca7f12
https://doi.org/10.1084/jem.20201062

Chronic granulomatous disease: the European experience.

Autor: 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

Publikováno v: PLoS ONE, Vol 4, Iss 4, p e5234 (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"

Externí odkaz: https://doaj.org/article/0e663008f09b445ca39a8b97a56d5380

Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients

Autor: Yechiel Schlesinger, Sivan Berger-Achituv, Polina Stepansky, Menachem Rottem, Nufar Marcus, Galia Grisaru-Soen, Dirk Roos, Amos Etzioni, Baruch Wolach, Martin de Boer, Jakov Levy, Ronit Gavrieli, Josef Ben Ari, Ben Zion Garty, Karin van Leeuwen, Raz Somech, Omar Abuzaitoun, Arnon Broides, Tal Stauber

Publikováno v: American Journal of Hematology. 92:28-36

Chronic granulomatous disease (CGD) is an innate immunodeficiency with a genetic defect of the nicotinamide adenosine dinucleotide phosphate, reduced, oxidase components. This leads to decreased reactive oxygen species (ROS) production, which renders

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::23dcdf6d2c2cf03e93cf5bb20573698d
https://doi.org/10.1002/ajh.24573

Malnutrition and inflammation in hemodialysis patients: Comparative evaluation of neutrophil reactive oxygen formation

Autor: Baruch Wolach, Ronit Gavrieli, Sydney Benchetrit, Tali Zitman-Gal, Meital Ohana, Aviad Sternschuss, Naomi Nacasch, Keren Cohen-Hagai

Publikováno v: Nutrition. 78:110793

Background Impaired phagocytic function has been established in uremic patients. Chemotaxis, particle ingestion, and free radical and metabolic activity were all found to be disturbed in dialysis patients. Malnutrition is common among hemodialysis (H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebc34026108cb2efb0dbbb0d24218b96
https://doi.org/10.1016/j.nut.2020.110793