Results 21 to 30 of about 1,240,530 (301)

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

Q fever outbreak in the terraced vineyards of Lavaux, Switzerland

New Microbes and New Infections, EarlyView., 2014
Abstract Coxiella burnetii infection (Q fever) is a widespread zoonosis with low endemicity in Switzerland, therefore no mandatory public report was required. A cluster of initially ten human cases of acute Q fever infections characterized by prolonged fever, asthenia and mild hepatitis occurred in 2012 in the terraced vineyard of Lavaux ...
C. Bellini, I. Magouras, C. Chapuis‐Taillard, O. Clerc, E. Masserey, G. Peduto, O. Péter, S. Schaerrer, G. Schuepbach, G. Greub   +9 more
wiley   +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

Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis

Human Mutation, Volume 43, Issue 12, Page 2091-2101, December 2022., 2022
Abstract The role of constitutional genetic defects in idiopathic pulmonary fibrosis (IPF) is increasingly appreciated. Monogenic disorders associated with IPF affect two pathways: telomere maintenance, accounting for approximately 10% of all patients with IPF, and surfactant biology, responsible for 1%–3% of cases and often co‐occurring with lung ...
Rachel M. Sutton, Humberto Trejo Bittar, Daniel I. Sullivan, Agustin Gil Silva, Harinath Bahudhanapati, Anishka H. Parikh, Yingze Zhang, Kevin Gibson, John F. McDyer, Daniel J. Kass, Jonathan K. Alder   +10 more
wiley   +1 more source

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

Nature Communications, 2018
Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency.
G. Arnadottir, G. Norddahl, Steinunn Gudmundsdottir, A. Agustsdottir, S. Sigurdsson, B. Jensson, Kristbjorg Bjarnadottir, Fannar Theódórs, S. Benonisdottir, Erna V. Ivarsdottir, A. Oddsson, Ragnar P. Kristjansson, G. Sulem, Kristjan F. Alexandersson, Thorhildur Juliusdottir, Kjartan R. Gudmundsson, J. Saemundsdottir, Adalbjorg Jonasdottir, Á. Jónasdóttir, A. Sigurdsson, P. Manzanillo, S. A. Gudjonsson, Gudmundur A. Thorisson, O. Magnusson, G. Másson, K. Orvar, H. Hólm, Sigurdur Bjornsson, R. Arngrímsson, D. Gudbjartsson, U. Thorsteinsdóttir, I. Jónsdóttir, Á. Haraldsson, P. Sulem, K. Stefánsson   +34 more
semanticscholar   +1 more source

A conservative treatment for eosinophilic cystitis

IJU Case Reports, Volume 6, Issue 1, Page 8-12, January 2023., 2023
Introduction Eosinophilic cystitis is a rare condition which causes common symptoms and may mimic other conditions. Eosinophilic cystitis has several causes such as hypereosinophilic syndrome, inflammatory diseases, neoplasia, parasites or fungal infection, IgE‐related diseases, Drug Reaction and Eosinophilia and Systemic Symptoms (DRESS) syndrome, or ...
Franco Alchiede Simonato, Nicola Pavan, Mirko Pinelli, Gabriele Tulone, Rosa Giaimo, Anna Martorana, Alchiede Simonato   +6 more
wiley   +1 more source

New Perspectives on the Immunopathogenesis and Treatment of Uveitis Associated With Vogt-Koyanagi-Harada Disease

Frontiers in Medicine, 2021
Uveitis associated with Vogt-Koyanagi-Harada (VKH) disease is a bilateral, chronic, granulomatous autoimmune disease associated with vitiligo, poliosis, alopecia, and meningeal and auditory manifestations.
Ahmed M. Abu El-Asrar, Ahmed M. Abu El-Asrar, Jo Van Damme, Sofie Struyf, Ghislain Opdenakker   +4 more
doaj   +1 more source

Inherited p40phox deficiency differs from classic chronic granulomatous disease

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.
A. van de Geer, A. Nieto-Patlán, D. Kuhns, A. Tool, A. Arias, M. Bouaziz, M. de Boer, J. Franco, R. Gazendam, J. V. van Hamme, M. van Houdt, K. van Leeuwen, P. Verkuijlen, T. K. van den Berg, J. Alzate, Carlos A. Arango-Franco, V. Batura, A. Bernasconi, Barbara Boardman, C. Booth, S. Burns, Felipe Cabarcas, N. C. Bensussan, F. Charbit-Henrion, A. Corveleyn, C. Deswarte, M. E. Azcoiti, D. Foell, J. Gallin, C. Garcés, M. Guedes, C. Hinze, S. Holland, S. Hughes, P. Ibáñez, H. Malech, I. Meyts, M. Moncada-Vélez, K. Moriya, Esmeralda Neves, M. Oleastro, Laura Perez, Vimel Rattina, Carmen Oleaga-Quintas, N. Warner, A. Muise, Jeanette López, E. Trindade, Julia Vasconcelos, S. Vermeire, H. Wittkowski, A. Worth, L. Abel, M. Dinauer, P. Arkwright, D. Roos, J. Casanova, T. Kuijpers, J. Bustamante   +58 more
semanticscholar   +1 more source

A case of hypogonadtropic hypogonadism due to hypophysitis discovered by secondary male infertility

IJU Case Reports, Volume 6, Issue 1, Page 51-53, January 2023., 2023
Introduction The main causes of secondary male infertility are varicocele and aging. It is rarely caused by adult‐onset hypopituitarism. The onset of hypopituitarism is often due to brain tumors, trauma, surgery, or congenital disorders. Case presentation A 29‐year‐old man was admitted to the hospital with complaints of decreased libido and semen ...
Masatoshi Konishi, Yoko Maegawa, Masaru Tani, Toshihisa Asakura, Yujiro Hayashi, Yoichi Kakuta, Koichi Tsutahara, Kazuhiko Komori, Tetsuya Takao   +8 more
wiley   +1 more source

Chronic granulomatous disease: why an inflammatory disease?

Brazilian Journal of Medical and Biological Research, 2014
Chronic granulomatous disease is a primary immunodeficiency caused by mutations in the genes encoding subunits of the phagocytic NADPH oxidase system. Patients can present with severe, recurrent infections and noninfectious conditions.
P. Roxo-Junior, H.M.L. Simão
doaj   +1 more source