Search Results - "Van Den Rym, Ana"

Role of CD39 in COVID-19 Severity: Dysregulation of Purinergic Signaling and Thromboinflammation by Díaz-García, Elena, García-Tovar, Sara, Alfaro, Enrique, Zamarrón, Ester, Mangas, Alberto, Galera, Raúl, Ruíz-Hernández, José Juan, Solé-Violán, Jordi, Rodríguez-Gallego, Carlos, Van-Den-Rym, Ana, Pérez-de-Diego, Rebeca, Nanwani-Nanwani, Kapil, López-Collazo, Eduardo, García-Rio, Francisco, Cubillos-Zapata, Carolina

“…CD39/NTPDase1 has emerged as an important molecule that contributes to maintain inflammatory and coagulatory homeostasis. Various studies have hypothesized the…”
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Inherited human ezrin deficiency impairs adaptive immunity by García-Solís, Blanca, Van Den Rym, Ana, Martinez-Martínez, Laura, Franco, Teresa, Pérez-Caraballo, Jareb J., Markle, Janet, Cubillos-Zapata, Carolina, Marín, Ana V., Recio, María J., Regueiro, José R., Navarro-Zapata, Alfonso, Mestre-Durán, Carmen, Ferreras, Cristina, Martín Cotázar, Carla, Mena, Roció, de la Calle-Fabregat, Carlos, López-Lera, Alberto, Fernández Arquero, Miguel, Pérez-Martínez, Antonio, López-Collazo, Eduardo, Sánchez-Ramón, Silvia, Casanova, Jean-Laurent, Martínez-Barricarte, Rubén, de la Calle-Martín, Oscar, Pérez de Diego, Rebeca

“…Inborn errors of immunity (IEI) are a group of monogenic diseases that confer susceptibility to infection, autoimmunity, and cancer. Despite the…”
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Human BCL10 Deficiency due to Homozygosity for a Rare Allele by Van Den Rym, Ana, Taur, Prasad, Martinez-Barricarte, Rubén, Lorenzo, Lazaro, Puel, Anne, Gonzalez-Navarro, Pablo, Pandrowala, Ambreen, Gowri, Vijaya, Safa, Amin, Toledano, Victor, Cubillos-Zapata, Carolina, López-Collazo, Eduardo, Vela, Maria, Pérez-Martínez, Antonio, Sánchez-Ramón, Silvia, Recio, Maria J., Casanova, Jean-Laurent, Desai, Mukesh M., Perez de Diego, Rebeca

“…In 2014, a child with broad combined immunodeficiency (CID) who was homozygous for a private BCL10 allele was reported to have complete inherited human BCL10…”
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Clinical and Immunological Features of Human BCL10 Deficiency by Garcia-Solis, Blanca, Van Den Rym, Ana, Pérez-Caraballo, Jareb J, Al-Ayoubi, Abdulwahab, Alazami, Anas M, Lorenzo, Lazaro, Cubillos-Zapata, Carolina, López-Collazo, Eduardo, Pérez-Martínez, Antonio, Allende, Luis M, Markle, Janet, Fernández-Arquero, Miguel, Sánchez-Ramón, Silvia, Recio, Maria J, Casanova, Jean-Laurent, Mohammed, Reem, Martinez-Barricarte, Rubén, Pérez de Diego, Rebeca

“…The CARD-BCL10-MALT1 (CBM) complex is critical for the proper assembly of human immune responses. The clinical and immunological consequences of deficiencies…”
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Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement by de la Fuente-Munoz, Eduardo, Van Den Rym, Ana, García-Solis, Blanca, Ochoa Grullón, Juliana, Guevara-Hoyer, Kissy, Fernández-Arquero, Miguel, Galán Dávila, Lucía, Matías-Guiú, Jorge, Sánchez-Ramón, Silvia, Pérez de Diego, Rebeca

“…Gain-of-function (GOF) mutations in STIM1 are responsible for tubular aggregate myopathy and Stormorken syndrome (TAM/STRMK), a clinically overlapping…”
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Ordering human CD34⁺CD10⁻CD19⁺ pre/pro-B-cell and CD19⁻ common lymphoid progenitor stages in two pro-B-cell development pathways by Sanz, Eva, Muñoz-A., Norman, Monserrat, Jorge, Van-Den-Rym, Ana, Escoll, Pedro, Ranz, Ismael, Álvarez-Mon, Melchor, de-la-Hera, Antonio

“…Studies here respond to two long-standing questions: Are human "pre/pro-B" CD34⁺CD10⁻CD19⁺ and "common lymphoid progenitor (CLP)/early-B" CD34⁺CD10⁺CD19⁻…”
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Sustained Interleukin-1β Exposure Modulates Multiple Steps in Glucocorticoid Receptor Signaling, Promoting Split-Resistance to the Transactivation of Prominent Anti-Inflammatory Genes by Glucocorticoids by Escoll, Pedro, Ranz, Ismael, Muñoz-Antón, Norman, van-den-Rym, Ana, Alvarez-Mon, Melchor, Martínez-Alonso, Carlos, Sanz, Eva, de-la-Hera, Antonio

“…Clinical treatment with glucocorticoids (GC) can be complicated by cytokine-induced glucocorticoid low-responsiveness (GC-resistance, GCR), a condition…”
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IgG4-related disease and B-cell malignancy due to an IKZF1 gain-of-function variant by García-Solís, Blanca, Tapia-Torres, María, García-Soidán, Ana, Hernández-Brito, Elisa, Martínez-Saavedra, María Teresa, Lorenzo-Salazar, José M., García-Hernández, Sonia, Van Den Rym, Ana, Mayani, Karan, Govantes-Rodríguez, José Vicente, Gervais, Adrian, Bastard, Paul, Puel, Anne, Casanova, Jean-Laurent, Flores, Carlos, Pérez de Diego, Rebeca, Rodríguez-Gallego, Carlos

“…[Display omitted] Monoallelic loss-of-function IKZF1 (IKAROS) variants cause B-cell deficiency or combined immunodeficiency, whereas monoallelic…”
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Inherited Human BCL10 Deficiencies by Alsaidalani, Ashwag A., García-Solís, Blanca, Bukhari, Esraa, Van Den Rym, Ana, López-Collazo, Eduardo, Sánchez-Ramón, Silvia, Corvillo, Fernando, López-Lera, Alberto, de Andrés, Ana, Martínez-Barricarte, Rubén, Perez de Diego, Rebeca

“…Human BCL10 deficiency causes combined immunodeficiency with bone marrow transplantation as its only curative option. To date, there are four homozygous…”
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Novel PGM3 compound heterozygous variants with IgE‐related dermatitis, lymphopenia, without syndromic features by García‐García, Ana, Buendia Arellano, Monserrat, Deyà‐Martínez, Àngela, Lozano Blasco, Jaime, Serrano, Mercedes, Van Den Rym, Ana, García‐Solis, Blanca, Esteve‐Solé, Ana, Yiyi, Luo, Vlagea, Alexandru, Solanich, Xavier, Fisher, Megan R., Lyons, Jonathan J., Diego, Rebeca Pérez, Alsina, Laia, Eigenmann, Philippe

“…Background Phosphoglucomutase‐3 (PGM3) deficiency is a congenital disorder of glycosylation (CDG) with hyperimmunoglobulin IgE, atopy, and a variable…”
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Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency by García-Gómez, Sonia, Chaparro, Rebeca, Safa, Amin, Van Den Rym, Ana, Martinez-Barricarte, Rubén, Lorenzo, Lazaro, Sánchez-Ramón, Silvia, Toledano, Victor, Cubillos-Zapata, Carolina, López-Collazo, Eduardo, Martín-Arranz, Maria Dolores, Martín-Arranz, Eduardo, Vela, Maria, Gonzalez-Navarro, Pablo, Pérez-Martínez, Antonio, Casanova, Jean-Laurent, Recio, Maria José, Pérez de Diego, Rebeca

“…T-cell and B-cell counts revealed a profound deficit in memory T and B cells, a normal response in myeloid cells, and a strong effect on NF-κB–mediated…”
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Sustained Interleukin-1[beta] Exposure Modulates Multiple Steps in Glucocorticoid Receptor Signaling, Promoting Split-Resistance to the Transactivation of Prominent Anti-Inflammatory Genes by Glucocorticoids by Escoll, Pedro, Ranz, Ismael, Muñoz-Anton, Norman, van-den-Rym, Ana, Alvarez-Mon, Melchor, Martinez-Alonso, Carlos, Sanz, Eva, de-la-Hera, Antonio

“…Clinical treatment with glucocorticoids (GC) can be complicated by cytokine-induced glucocorticoid low-responsiveness (GC-resistance, GCR), a condition…”
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Ordering human CD34⁺CD10⁻CD19⁺ pre/pro-B-cell and CD19⁻ common lymphoid progenitor stages in two pro-B-cell development pathways by Sanz, Eva, Muñoz-A., Norman, Monserrat, Jorge, Van-Den-Rym, Ana, Escoll, Pedro, Ranz, Ismael, Álvarez-Mon, Melchor, de-la-Hera, Antonio

“…Studies here respond to two long-standing questions: Are human "pre/pro-B" CD34⁺CD10⁻CD19⁺ and "common lymphoid progenitor (CLP)/early-B"…”
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Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement by de la Fuente-Munoz, Eduardo, Van Den Rym, Ana, García-Solis, Blanca, Ochoa Grullón, Juliana, Guevara-Hoyer, Kissy, Fernández-Arquero, Miguel, Galán Dávila, Lucía, Matías-Guiú, Jorge, Sánchez-Ramón, Silvia, Pérez de Diego, Rebeca

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