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Chronic Granulomatous Disease [PDF]

Indian Dermatology Online Journal, 2015
Background: Chronic granulomatous disease (CGD) is an uncommon primary immunodeficiency that can be inherited in an X-linked (XL) or an autosomal recessive (AR) manner. We reviewed our large, single-center US experience with CGD.
P. Bortoletto, Kyle A. Lyman, A. Camacho, Marielle J Fricchione, A. Khanolkar, B. Katz   +5 more
semanticscholar   +8 more sources

Chronic granulomatous disease. [PDF]

British Medical Bulletin, 2016
Chronic granulomatous disease is a clinical condition that stems from inactivating mutations in NOX2 and its auxiliary proteins. Together, these proteins form the phagocyte NADPH oxidase enzyme that generates superoxide. Superoxide (O2ċ-) and its reduced product hydrogen peroxide (H2O2) give rise to several additional reactive oxygen species (ROS ...
Dirk Roos
semanticscholar   +8 more sources

Inherited p40phox deficiency differs from classic chronic granulomatous disease [PDF]

Journal of Clinical Investigation, 2018
Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40phox subunit of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficient patients from 12 additional families in 8 countries.
Dinauer, Mary C, et al,
core   +3 more sources

Using genes to triangulate the pathophysiology of granulomatous autoinflammatory disease: NOD2, PLCG2 and LACC1

International Immunology, 2018
The intersection of granulomatosis and autoinflammatory disease is a rare occurrence that can be generally subdivided into purely granulomatous phenotypes and disease spectra that are inclusive of granulomatous features.
Michael J Ombrello
exaly   +2 more sources

Chronic Granulomatous Disease

Hematology/Oncology Clinics of North America, 2013
Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as ...

exaly   +2 more sources

X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability

Journal of Allergy and Clinical Immunology, 2018
Beatriz E Marciano, Suk See Deravin, Samantha Kreuzburg   +2 more
exaly   +2 more sources

Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease

Journal of Allergy and Clinical Immunology, 2014
Alessandra Magnani, Julien Beaute, Nizar Mahlaoui   +2 more
exaly   +2 more sources

Lentiviral gene therapy for X-linked chronic granulomatous disease

Nature Medicine, 2020
Chronic granulomatous disease (CGD) is a rare inherited disorder of phagocytic cells1,2. We report the initial results of nine severely affected X-linked CGD (X-CGD) patients who received ex vivo autologous CD34+ hematopoietic stem and progenitor cell ...
D. Kohn, C. Booth, E. Kang, S. Pai, K. Shaw, G. Santilli, M. Armant, K. Buckland, Uimook Choi, S. de Ravin, M. Dorsey, C. Kuo, D. León‐Rico, C. Rivat, N. Izotova, K. Gilmour, Katie Snell, Jinhua Xu-Bayford Dip, J. Darwish, E. Morris, Dayna Terrazas, Leo D. Wang, C. Bauser, T. Paprotka, D. Kuhns, J. Gregg, H. Raymond, J. Everett, G. Honnet, L. Biasco, P. Newburger, F. Bushman, M. Grez, H. Gaspar, David A. Williams, H. Malech, A. Galy, A. Thrasher, Karen F. Christopher A. Geraldine Manuel H. Bobby Anne A Buckland Bauser Honnet Grez Gaspar Galy Thrasher, K. Buckland, C. Bauser, A. Thrasher   +41 more
semanticscholar   +1 more source

Haematopoietic Cell Transplantation in Chronic Granulomatous Disease: a Study on 712 Children and Adults.

Blood, 2020
Chronic Granulomatous Disease (CGD) is a primary immunodeficiency resulting in life-threatening infections and inflammatory complications. Allogeneic hematopoietic cell transplantation (allo-HCT) can cure patients, but indication to transplant remains ...
R. Chiesa, Junfeng Wang, Henric-Jan Blok, Sheree Hazelaar, B. Neven, D. Moshous, A. Schulz, M. Hoenig, F. Hauck, A. Al Seraihy, J. Gozdzik, P. Ljungman, C. Lindemans, Juliana Fernandes, K. Kalwak, B. Strahm, U. Schanz, P. Sedláček, K. Sykora, S. Aksoylar, F. Locatelli, P. Stepensky, R. Wynn, S. Lum, M. Zecca, F. Porta, M. Taskinen, B. Gibson, S. Matthes, M. Karakukcu, Mathias M. Hauri-Hohl, P. Veys, A. Gennery, G. Lucchini, Matthias Felber, M. Albert, D. Balashov, A. Lankester, T. Güngör, M. Slatter   +39 more
semanticscholar   +1 more source

Chronic granulomatous disease [PDF]

The British Journal of Radiology, 1970
Abstract Chronic granulomatous disease is a hereditable disorder in which polymorphs show diminished capacity for killing bacteria. Defective bactericidal activity results in protracted infection. The lesions of chronic granulomatous disease may affect all systems of the body.
J, Sutcliffe, A R, Chrispin
openaire   +4 more sources