Detection of specific RBD+ IgG+ memory B cells by flow cytometry in healthcare workers and patients with inborn errors of immunity after BNT162b2 m RNA COVID-19 vaccination

Autor: Lucía del Pino Molina, Luz Yadira Bravo Gallego, Pilar Nozal, Yolanda Soto-Serrano, Ana Martínez-Feito, Keren Reche-Yebra, Andrea González-Torbay, Ricardo Cuesta-Martín de la Cámara, Carla Gianelli, Carmen Cámara, J. González-García, Miguel González-Muñoz, Rebeca Rodríguez-Pena, Eduardo López Granados

Publikováno v: Frontiers in Immunology, Vol 14 (2023)

IntroductionInborn errors of immunity (IEI) are a heterogeneous group of diseases caused by intrinsic defects of the immune system. Estimating the immune competence of immunocompromised patients for an infection risk assessment or after SARS-CoV-2 va

Externí odkaz: https://doaj.org/article/3289212c012a42ecab5e3b45577285a9

Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome

Autor: Marta López-Nevado, Jorge Docampo-Cordeiro, José T. Ramos, Rebeca Rodríguez-Pena, Celia Gil-López, Silvia Sánchez-Ramón, Juana Gil-Herrera, María J. Díaz-Madroñero, María A. Delgado-Martín, Pablo Morales-Pérez, Estela Paz-Artal, Aude Magerus, Frederic Rieux-Laucat, Luis M. Allende

Publikováno v: Frontiers in Immunology, Vol 12 (2021)

Autoimmune lymphoproliferative syndrome (ALPS) is a primary immune regulatory disorder clinically defined by chronic and benign lymphoproliferation, autoimmunity and an increased risk of lymphoma due to a genetic defect in the FAS-FASL apoptotic path

Externí odkaz: https://doaj.org/article/9f546abb5faf4cb58a48b8783a855a0e

Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies

Autor: Elisa Cordero, Rocío Parody, Ana Méndez-Echevarría, Juan I. Aróstegui, David Moreno-Pérez, Jan Ramakers, Francisco López-Medrano, José Manuel Lucena, Peter Olbrich, Juan Luis Santos-Pérez, Eduardo López-Granados, Walter Alfredo Goycochea-Valdivia, Juana Gil-Herrera, Rebeca Rodríguez Pena, Javier Carbone, María Bravo García-Morato, Pere Soler-Palacín, Jacques G. Rivière, Carlota Gudiol, Laia Alsina, Cristina Roca-Oporto, Jesús Fortún, José R. Regueiro, Carlos Rodríguez-Gallego, Oscar Len-Abad, Luis M. Allende, Patricia Muñoz, Luis Ignacio Gonzalez-Granado, Isabel Serra, Olaf Neth, Clara Aguilera Cros, Silvia Sánchez-Ramón

Publikováno v: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Digital.CSIC. Repositorio Institucional del CSIC
instname
ENFERMEDADES INFECCIOSAS Y MICROBIOLOGIA CLINICA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Journal of Allergy and Clinical Immunology-In Practice
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

[EN] Primary immunodeficiencies (PIDs) are rare, undiagnosed and potentially fatal diseases. Clinical manifestations of PID can be fatal or leave sequelae that worsen the quality of life of patients. Traditionally, the treatment of PIDs has been larg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4f386cf50392c417bd5a47bcf8a90fd
https://doi.org/10.1016/j.eimce.2020.07.004

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

Autor: Elena Vallespín, Gloria Oliva-Molina, Ana Bustamante, Victor Martinez-Glez, Michael T. Dellinger, Isabel Colmenero, Rebeca Rodríguez Pena, Kristina Ibáñez, Carmen Ayuso, Cristina Villaverde, Noelia Agra, Rubén Martín-Arenas, Devon Hominick, Noor Khurana, Lara Rodriguez-Laguna, Pablo Lapunzina, María J. Beato, Juan Carlos López-Gutiérrez, Angela del Pozo, Gema Gordo, Gonzalo Herranz, Juan M. Torres Canizalez

Publikováno v: Journal of Experimental Medicine. 216:407-418

Generalized lymphatic anomaly (GLA) is a vascular disorder characterized by diffuse or multifocal lymphatic malformations (LMs). The etiology of GLA is poorly understood. We identified four distinct somatic PIK3CA variants (Glu542Lys, Gln546Lys, His1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::94f598cddd6cb5a6a3b7b7bb97372c89
https://doi.org/10.1084/jem.20181353

Failure of Viral-Specific T Cells Administered in Pre-transplant Settings in Children with Inborn Errors of Immunity

Autor: Elena Sánchez-Zapardiel, Sergi Querol, Raquel de Paz, Ana Méndez-Echevarría, Luisa Sisinni, Pere Soler-Palacín, Jacques G. Rivière, Yasmina Mozo, David Bueno, Eduardo López-Granados, Ramon Gimeno, Rebeca Rodríguez-Pena, Laura C. Alonso, Cristina Díaz de Heredia, Francesc Rudilla, Antonio Pérez-Martínez

Publikováno v: Journal of clinical immunology. 41(4)

Use of adoptive immunotherapy with virus-specific T cells (VST) in patients with inborn errors of immunity prior to hematopoietic stem cell transplantation (HSCT) has been reported in few patients. We report our experience, reviewing all the cases pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2120911861e8d3540d1c845b1dc1bd96
https://pubmed.ncbi.nlm.nih.gov/33462728