The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

Autor: Stephan Borte, Rainer Doffinger, Richard K Russell, Bodo Grimbacher, Paul Henderson, Reinhold E. Schmidt, David Hagin, Dinakantha S. Kumararatne, Robin Kobbe, Gregor Dückers, Lisa Devlin, Jan Raabe, Milos Jesenak, Sebastian Fuchs, Leen Moens, Natalie Frede, Magda Carneiro-Sampaio, Cristina Glocker, Suranjith L. Seneviratne, Hans J. Stauss, Isabelle Meyts, Ulrich Baumann, Dowain A. Wright, Christine McCusker, T. Prescott Atkinson, Troy R. Torgerson, M Depner, J Wanders, José Luis Franco, Michael Borte, Anne-Bine Skytte, Tim Niehues, J. David M. Edgar, Cristina Miuki Abe Jacob, Asbjørg Stray-Pedersen, Harry W. Schroeder, Effrossyni Gkrania-Klotsas, Moshe Ben-Shoshan, Julio César Orrego

Publikováno v: Journal of Clinical Immunology
Depner, M, Fuchs, S, Raabe, J, Frede, N, Glocker, C, Doffinger, R, Gkrania-Klotsas, E, Kumararatne, D, Atkinson, T P, Schroeder, H W, Niehues, T, Dückers, G, Stray-Pedersen, A, Baumann, U, Schmidt, R, Franco, J L, Orrego, J, Ben-Shoshan, M, McCusker, C, Jacob, C M A, Carneiro-Sampaio, M, Devlin, L A, Edgar, J D M, Henderson, P, Russell, R K, Skytte, A-B, Seneviratne, S L, Wanders, J, Stauss, H, Meyts, I, Moens, L, Jesenak, M, Kobbe, R, Borte, S, Borte, M, Wright, D A, Hagin, D, Torgerson, T R & Grimbacher, B 2016, ' The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 ', Journal of clinical & cellular immunology, vol. 36, no. 1, pp. 73-84 . https://doi.org/10.1007/s10875-015-0214-9
Depner, M, Fuchs, S, Raabe, J, Frede, N, Glocker, C, Doffinger, R, Gkrania-Klotsas, E, Kumararatne, D, Atkinson, T P, Schroeder, H W, Niehues, T, Dückers, G, Stray-Pedersen, A, Baumann, U, Schmidt, R, Franco, J L, Orrego, J, Ben-Shoshan, M, McCusker, C, Jacob, C M A, Carneiro-Sampaio, M, Devlin, L A, Edgar, J D M, Henderson, P, Russell, R K, Skytte, A-B, Seneviratne, S L, Wanders, J, Stauss, H, Meyts, I, Moens, L, Jesenak, M, Kobbe, R, Borte, S, Borte, M, Wright, D A, Hagin, D, Torgerson, T R & Grimbacher, B 2016, ' The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 ', Journal of Clinical Immunology, vol. 36, no. 1, pp. 73-84 . https://doi.org/10.1007/s10875-015-0214-9

PURPOSE: Gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune dysregulation and immunodeficiency. The latter is often characterized by the susceptibili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7008eda25507d6fb1c74581f93b0eaf3
https://lirias.kuleuven.be/handle/123456789/525533

Macrophage activation syndrome in juvenile systemic lupus erythematosus: A multinational multicenter study of thirty-eight patients

Autor: Alberto Fischer, Silvia Magni-Manzoni, Nicolino Ruperto, Graciela Espada, AB Pringe, Alessandro Parodi, Brigitte Bader-Meunier, Dowain A. Wright, Angelo Ravelli, Antonio Iglesias, Gary Sterba, Sergio Davì, Paivi Miettunen, Carine Wouters, Alberto Martini, Claudia Saad Magalhães, Angela Pistorio, Dinara Guseinova, Patricia Woo, Seza Ozen, Claudia Bracaglia, Marina Vivarelli, Raju Khubchandani, Luciana Breda, Kristen Hayward, Alexei A. Grom, Hartmut Michels

Publikováno v: Arthritis & Rheumatism. 60:3388-3399

Objective To describe the clinical and laboratory features of macrophage activation syndrome as a complication of juvenile systemic lupus erythematosus (SLE). Methods Cases of juvenile SLE–associated macrophage activation syndrome were provided by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b8c211c3b14ab4b110ec84cadf2caf34
https://doi.org/10.1002/art.24883

The mouse genome contains two expressed intronless retroposed pseudogenes for the sentrin/sumo-1/PIC1 conjugating enzyme Ubc9

Autor: Erdyni N. Tsitsikov, Raif S. Geha, Alla V. Tsytsykova, Dowain A. Wright, Bruce Futcher

Publikováno v: Molecular Immunology. 35:1057-1067

The ubiquitin conjugating (ubc) E2 enzyme ubc-9 conjugates the ubiquitin-like peptide sentrin/SUMO-1/PIC1 to target proteins which include the Fas antigen. We show that the mouse genome contains four copies of the ubc-9 gene. These include a structur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a0a169d28dbbd869f053a941ad6cbb6
https://doi.org/10.1016/s0161-5890(98)00094-7

Treatment of immune globulin-resistant Kawasaki disease with pulsed doses of corticosteroids

Autor: Dowain A. Wright, Annette L. Baker, Jane W. Newburger, Robert P. Sundel

Publikováno v: The Journal of Pediatrics. 128:146-149

We describe four children with Kawasaki disease resistant to treatment with intravenously administered immune globulin who were treated with high doses of methylprednisolone. All four patients apparently responded with normalization of symptoms, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b196e15c5cc351666a7f9052bddbf8a
https://doi.org/10.1016/s0022-3476(96)70447-x

CD30 induction of human immunodeficiency virus gene transcription is mediated by TRAF2

Autor: Erdyni N. Tsitsikov, Dowain A. Wright, Raif S. Geha

CD30 is a member of the tumor necrosis factor receptor (TNFR) superfamily expressed on activated T and B lymphocytes and natural killer cells. Ligation of CD30 was previously shown to induce NF-κB activation and HIV expression in chronically infecte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8362673c9baf56cd60e7e7c6b3c6984d
https://europepmc.org/articles/PMC19801/