Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Matías, Oleastro"'
Autor:
Luciano Urdinez, Lorenzo Erra, Alejandro M. Palma, María F. Mercogliano, Julieta Belén Fernandez, Emma Prieto, Verónica Goris, Andrea Bernasconi, Marianela Sanz, Mariana Villa, Carolina Bouso, Lucia Caputi, Belen Quesada, Daniel Solis, Anabel Aguirre Bruzzo, Maria Martha Katsicas, Laura Galluzzo, Christian Weyersberg, Marcela Bocian, Maria Marta Bujan, Matías Oleastro, María B. Almejun, Silvia Danielian
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
CARD11-associated diseases are monogenic inborn errors of immunity involving immunodeficiency, predisposition to malignancy and immune dysregulation such as lymphoproliferation, inflammation, atopic and autoimmune manifestations. Defects in CARD11 ca
Externí odkaz:
https://doaj.org/article/75447857ce834becba913f9b9a7c680e
Publikováno v:
Journal of Clinical Immunology. 41:1960-1963
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::15923a8ef699688fc26a0e89e7d0b8a2
https://doi.org/10.1007/s10875-021-01125-0
https://doi.org/10.1007/s10875-021-01125-0
Autor:
Laura Perez, Fernando Messina, Matías Oleastro, Jean-Laurent Casanova, Alicia Arechavala, Ricardo Negroni, Jacinta Bustamante, Mélanie Migaud, Gabriela Santiso, Anne Puel
Publikováno v:
J Clin Immunol
PURPOSE. Caspase-associated recruitment domain-9 (CARD9) deficiency is an inborn error of immunity that typically predisposes otherwise healthy patients to single fungal infections and the occurrence of multiple invasive fungal infections is rare. It
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9aa339a1ae14dc4901e9b34675236f16
https://doi.org/10.1007/s10875-019-00740-2
https://doi.org/10.1007/s10875-019-00740-2
Autor:
María Belén Almejún, Silvia Danielian, Julie E. Niemela, Shubham Goel, Matías Oleastro, William Alexander Franco Gallego, José Luis Franco, Eyal Grunebaum, Hye Sun Kuehn, Thomas A. Fleisher, Ronald Guillermo Peláez Sánchez, Zuhair K. Ballas, Charlotte Cunningham-Rundles, Jennifer Stoddard, Andrea Bernasconi, Sergio D. Rosenzweig, Carlos Andrés Arango Franco
Publikováno v:
J Clin Immunol
The noncanonical NF-κB pathway is implicated in diverse biological and immunological processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 have been recently identified as a cause of immunodeficiency manifesting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0ab8505210bb3c2d96a78e87c9eabcf
https://europepmc.org/articles/PMC7853007/
https://europepmc.org/articles/PMC7853007/
Autor:
Sergio D. Rosenzweig, José Luis Franco, Andrea Bernasconi, Matías Oleastro, Julie E. Niemela, María Belén Almejún, Carlos Andrés Arango Franco, William Alexander Franco Gallego, Charlotte Cunningham-Rundles, Shubham Goel, Eyal Grunebaum, Ronald Guillermo Peláez Sánchez, Zuhair K. Ballas, Jennifer Stoddard, Silvia Danielian, Hye Sun Kuehn, Thomas A. Fleisher
Publikováno v:
J Clin Immunol
The noncanonical NF-κB pathway is implicated in diverse biological and immunological processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 have been recently identified as a cause of immunodeficiency manifesting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f606d8faf7c1fad0b0136308c23f97b4
https://europepmc.org/articles/PMC7567683/
https://europepmc.org/articles/PMC7567683/
Autor:
Masao Kobayashi, Reiko Kagawa, Hidetoshi Takada, Osamu Ohara, Jamila El Baghdadi, Maiko Ikeda, Yuval Itan, Silvia Danielian, Jean-Laurent Casanova, Kaori Fujiwara, Ryoji Fujiki, Osamu Hirata, Zenichiro Kato, Satoshi Saito, Shiho Nishimura, Aziz Bousfiha, Jacinta Bustamante, Fatima Ailal, Stéphanie Boisson-Dupuis, Satoshi Okada, Anne Puel, Matías Oleastro, Laura Perez, Xiao-Fei Kong, Toshiro Hara, Hidenori Ohnishi, Judith Yancoski, Sonoko Sakata, Miyuki Tsumura
Publikováno v:
Journal of Allergy and Clinical Immunology. 140:232-241
Background Germline heterozygous mutations in human signal transducer and activator of transcription 1 (STAT1) can cause loss of function (LOF), as in patients with Mendelian susceptibility to mycobacterial diseases, or gain of function (GOF), as in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::429ad4a102e3d127b3a5042939732c49
https://doi.org/10.1016/j.jaci.2016.09.035
https://doi.org/10.1016/j.jaci.2016.09.035
Autor:
Michael A. Weinreich, Megan A. Cooper, Pia J. Hauk, Thomas DiMaggio, Batsukh Dorjbal, Geronimo Dubra, Eric Meffre, Brian S. Kim, Jonathan J. Lyons, Jordan K. Abbott, Erwin W. Gelfand, Chi Ma, Emma Prieto, Kelly D. Stone, Joshua D. Milner, Natsuko Yamakawa, Jeffrey R. Stinson, Silvia Danielian, Jonathan Zaiat, Paul R. Reynolds, Andrew L. Snow, Swadhinya Arjunaraja, Yu Zhang, Elisa Ruffo, Salomé Glauzy, Sergio D. Rosenzweig, Jennifer Stoddard, Marcelo A. Martí, Matías Oleastro, Nina Jones, Neil Romberg, Alejandro Palma, Kelsey Voss, Celeste G Nelson, Joshua J McElwee, Julie E. Niemela, Helen F. Matthews, Yuan Zhang, Andrea Bernasconi
Publikováno v:
Nature Genetics. 49:1192-1201
Few monogenic causes for severe manifestations of common allergic diseases have been identified. Through next-generation sequencing on a cohort of patients with severe atopic dermatitis with and without comorbid infections, we found eight individuals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0771c386e540f21e44863d09e0748ebd
https://doi.org/10.1038/ng.3898
https://doi.org/10.1038/ng.3898
Autor:
Lucia Daxinger, Peter E. Thijssen, L. Spossito, Francesco Licciardi, S.M. van der Maarel, A Ikinciogullari, Corry M.R. Weemaes, Matías Oleastro, E. Bailardo, Ercan Nain, M.M. van Ostaijen-ten Dam, Rogier Kersseboom, Figen Dogu, M. van den Boogaard, M.J.D. van Tol, Virgil A. S. H. Dalm, Safa Baris, F. A. T. de Vries, Gertjan J. Driessen, Caner Aytekin, Ayca Kiykim
Publikováno v:
Clinical Genetics. 92:380-387
Background Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare, genetically heterogeneous, autosomal recessive disorder. Patients suffer from recurrent infections caused by reduced levels or absence of serum immun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::266e25536400d64844a4548b1c31296e
https://doi.org/10.1111/cge.12979
https://doi.org/10.1111/cge.12979
Autor:
Miguel Galicchio, Matías Oleastro, Jorge Rossi, Mariana Villa, Andrea Bernasconi, Judith Yancoski
Publikováno v:
Journal of Clinical Immunology. 38:745-747
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ec5bb40eef6ab30a6761474e3f1411d
https://doi.org/10.1007/s10875-018-0557-0
https://doi.org/10.1007/s10875-018-0557-0
Autor:
I. Celine Hanson, Nedim Hadzic, Gustavo Kusminsky, Francesca Ferrua, Matías Oleastro, Isabelle Meyts, Giorgia Bucciol, Jacques Pirenne, Paola Quarello, M. Teresa de la Morena, Andrzej Lange, Marek Stefanowicz, Nizar Mahlaoui, Francesco Tandoi, Z Nademi, Pier Luigi Calvo, Elena Soncini, Fulvio Porta, Troy R. Torgerson, Andrew J. Cant, Teresa Espanol, Marcelo Silva, Andrew R. Gennery, Sarah K. Nicholas, Benedicte Neven, Beata Wolska-Kuśnierz, Katja G. Weinacht, Paul Veys, Fanny Lanternier, Miguel Galicchio, Despina Moshous, J. David M. Edgar, Mary Slatter, Mikołaj Teisseyre
Liver disease in X-linked hyper IgM syndrome (XHIGM) is an important predictor of mortality. In case liver transplantation (LT) is required, a survival benefit is observed when LT is combined with HSCT. ispartof: JOURNAL OF ALLERGY AND CLINICAL IMMUN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47b33dc1fa6504d7faeb91aa6bf94066
https://lirias.kuleuven.be/handle/123456789/633572
https://lirias.kuleuven.be/handle/123456789/633572