Jordi Yagüe

IgD from atypical-like memory B cells and plasma cells targets commensal and environmental antigens

Roser Tachó‐Piñot, Habib Bashour, Martyna Filipska, Celia Corral-Vázquez et autres

Human tonsils from the nasopharyngeal mucosa mount frontline antibody responses, including IgD secretion by IgD+IgM- plasma cells (IgD-PCs). The developmental origins and functional significance of these IgD responses remain poorly understood. Here, we show that most IgD-PCs clonally emerge from a heterogeneous …

gb, es, no, us, de, hr, at, it (code pays fourni par la source)

Novel Insights into the Clinical Features, Genetic Spectrum and Clonal Evolution of Patients Carrying NLRP3 Mosaicism

Núria Bonet, José Manuel Mascaró, Laura Hurtado‐Navarro, Diego Angosto-Bazarra et autres

NLRP3 mosaicism is a well-established mechanism causing the monogenic autoinflammatory disease named cryopyrin-associated periodic syndromes (CAPS). The number of reported patients with NLRP3 mosaicism is small, and the knowledge about the long-term disease behavior is limited. Herein we assembled the largest cohort …

es (code pays fourni par la source)

LBA33 Circulating tumor (ct) DNA-guided anti-EGFR rechallenge strategy in metastatic colorectal cancer (mCRC): Final results of the phase II randomized CITRIC trial

Clara O. Montagut, Joana Vidal, Caridad Fernández Rodríguez, Francesc Salvà Ballabrera et autres

es (code pays fourni par la source)

Hypomethylating agents for patients with VEXAS without myelodysplastic syndrome: Clinical outcome and longitudinal follow‐up of vacuolization and UBA1 clonal dynamics

José Ramón Álamo Moreno, Lucía Mont‐de Torres, Sandra Castaño‐Díez, Anna Mensa‐Vilaró et autres

VEXAS syndrome is a haemato-inflammatory disease caused by somatic UBA1 mutations and characterized by cytoplasmic vacuoles in myeloid and erythroid precursor cells. Although there is currently no standard treatment algorithm for VEXAS, patients are generally treated with anti-inflammatory therapies focused on symptom …

es (code pays fourni par la source)

40 años de España en Europa

Eduardo Carlo Amat García, J.L. López, Jorge Antonio Jiménez Carrero Jiménez Carrero, Virginia Saldaña Ortega et autres

Hace cuatro décadas, España daba un paso decisivo hacia la consolidación del proceso democrático y lo hacía a través de su ingreso en las entonces Comunidades Europeas, con el fin de participar activamente en la construcción de la integración europea. Culminaba así …

Clinical Features, Outcomes of Treatments, Inflammasome Function and Longitudinal Clonal Dynamics into NLRP3 Mosaicism: Evidence from the Largest Cryopyrin-associated Periodic Syndromes Cohort to Date

Núria Bonet, José Manuel Mascaró, Laura Hurtado‐Navarro, Diego Angosto-Bazarra et autres

Abstract Objective NLRP3 mosaicism is a well-established mechanism causing cryopyrin-associated periodic syndromes (CAPS). The number of reported patients with mosaicism is small, and the knowledge about the long-term disease behavior is limited. Herein we have assembled the largest cohort of individuals with …

es (code pays fourni par la source)

Characterizing Protracted Febrile Myalgia: Fasciitis and Vasculitis of the Fascia and Muscle as Novel Histopathological Features

José Hernández‐Rodríguez, Lola Mestre-Trabal, Verónica Gómez‐Caverzaschi, Olga M. O. Araújo et autres

Background: Protracted febrile myalgia (PFM) is a rare but severe form of myalgia mainly occurring in pediatric patients with familial Mediterranean fever (FMF). PFM imaging and histopathological data remain scarce. Objectives: A comprehensive clinical, imaging, and histopathological characterization of PFM was performed …

es (code pays fourni par la source)

Serum mass spectrometry for treatment monitoring in patients with multiple myeloma receiving ARI0002h CAR T‐cells

Iñaki Ortiz de Landazuri, Aina Oliver‐Caldés, Marta Español‐Rego, Cristina Agulló et autres

Chimeric antigen receptor (CAR) T-cell therapies have increased the patients with relapsed/refractory multiple myeloma (RRMM) in whom standard electrophoretic techniques fail to detect the M-protein. Quantitative immunoprecipitation mass spectrometry (QIP-MS) can accurately measure serum M-protein with high sensitivity, and identify interferences caused …

es (code pays fourni par la source)

76P Association of clinicopathological (C-P) features and tumor (tum) immune contexture with dissemination pattern in metastatic colorectal cancer (mCRC)

Francesc Salvà Ballabrera, Eduardo García‐Galea, Raquel Comas, C. Salva de Torres et autres

es, it (code pays fourni par la source)

Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist

Elena Urbaneja, Núria Bonet, Manuel Solís-Moruno, Anna Mensa‐Vilaró et autres

Undiagnosed monogenic diseases represent a challenging group of human conditions highly suspicious to have a genetic origin, but without conclusive evidences about it. We identified two brothers born prematurely from a non-consanguineous healthy couple, with a neonatal-onset, chronic disease characterized by severe …

es (code pays fourni par la source)

Disease phenotypes in adult patients with suspected undifferentiated autoinflammatory diseases and PFAPA syndrome: Clinical and therapeutic implications

Verónica Gómez‐Caverzaschi, Jordi Yagüe, Gerard Espinosa, Isabet Mayordomo-Bofill et autres

BACKGROUND: Undifferentiated autoinflammatory diseases are characterized by recurrent or persistent fever, usually combined with other inflammatory manifestations, and negative or inconclusive genetic studies for monogenic autoinflammatory disorders. AIMS: To define and characterize disease phenotypes in adult patients diagnosed in an adult reference …

es (code pays fourni par la source)

Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome

Daniela Ospina Cardona, Ignasi Rodríguez‐Pintó, Sonia Iosim, Núria Bonet et autres

OBJECTIVE: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a complex immune disorder consequence of somatic UBA1 variants. Most reported pathogenic UBA1 variants are missense or splice site mutations directly impairing the translational start site at p.Met41, with recent studies showing …

us, es (code pays fourni par la source)