Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lucia Caputi"'
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
Autor:
Jérémie Rosain, Andrea Bernasconi, Emma Prieto, Lucia Caputi, Tom Le Voyer, Guadalupe Buda, Marcelo Marti, Jonathan Bohlen, Anna-Lena Neehus, Claudio Castaños, Rosario Gallagher, Karim Dorgham, Matias Oleastro, Laura Perez, Silvia Danielian, Jose Edgardo Dipierri, Jean-Laurent Casanova, Jacinta Bustamante, Mariana Villa
Publikováno v:
Journal of clinical immunology. 42(5)
Background Autosomal recessive (AR) complete IRF8 deficiency is a rare severe inborn error of immunity underlying an absence of blood myeloid mononuclear cells, intracerebral calcifications, and multiple infections. Only three unrelated patients have