Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience

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 can present as mutations that confer a complete or a...

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Detalles Bibliográficos
Autores principales: Urdinez, Luciano, Erra, Lorenzo, Palma, Alejandro M., Mercogliano, María F., Fernandez, Julieta Belén, Prieto, Emma, Goris, Verónica, Bernasconi, Andrea, Sanz, Marianela, Villa, Mariana, Bouso, Carolina, Caputi, Lucia, Quesada, Belen, Solis, Daniel, Aguirre Bruzzo, Anabel, Katsicas, Maria Martha, Galluzzo, Laura, Weyersberg, Christian, Bocian, Marcela, Bujan, Maria Marta, Oleastro, Matías, Almejun, María B., Danielian, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9668901/
https://www.ncbi.nlm.nih.gov/pubmed/36405754
http://dx.doi.org/10.3389/fimmu.2022.1020927

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