Clinical and functional spectrum of RAC2-related immunodeficiency

Authors: Donkó, Ágnes, Sharapova, Svetlana O., Kabat, Juraj, Ganesan, Sundar, Hauck, Fabian H., Bergerson, Jenna R. E., Marois, Louis, Abbott, Jordan, Moshous, Despina, Williams, Kelli W., Campbell, Nicholas, Martin, Paul L., Lagresle-Peyrou, Chantal, Trojan, Timothy, Kuzmenko, Natalia B., Deordieva, Ekaterina A., Raykina, Elena V., Abers, Michael S., Abolhassani, Hassan, Barlogis, Vincent, Milla, Carlos, Hall, Geoffrey, Mousallem, Talal, Church, Joseph, Kapoor, Neena, Cros, Guilhem, Chapdelaine, Hugo, Franco-Jarava, Clara, Lopez-Lerma, Ingrid, Miano, Maurizio, Leiding, Jennifer W., Klein, Christoph, Stasia, Marie José, Fischer, Alain, Hsiao, Kuang-Chih, Martelius, Timi, Sepännen, Mikko R. J., Barmettler, Sara, Walter, Jolan, Masmas, Tania N., Mukhina, Anna A., Falcone, Emilia Liana, Kracker, Sven, Shcherbina, Anna, Holland, Steven M., Leto, Thomas L., Hsu, Amy P.

Source: In Blood 11 April 2024 143(15):1476-1487

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.

Authors: Urban, Blanca, Batlle-Masó, Laura, Perurena-Prieto, Janire, Garcia-Prat, Marina, Parra-Martínez, Alba, Aguiló-Cucurull, Aina, Martinez-Gallo, Mónica, Moushib, Laith, Antolín, María, Rivière, Jacques G., Soler-Palacin, Pere, Dieli-Crimi, Romina, Franco-Jarava, Clara, Colobran, Roger

Source: Journal of Clinical Immunology; 2025, Vol. 45 Issue 1, p1-10, 10p

Non-invasive vagus nerve stimulation for rheumatoid arthritis: a proof-of-concept study

Authors: Marsal, Sara ^*, Corominas, Héctor, de Agustín, Juan José, Pérez-García, Carolina, López-Lasanta, María, Borrell, Helena, Reina, Delia, Sanmartí, Raimón, Narváez, Javier, Franco-Jarava, Clara, Peterfy, Charles, Narváez, José Antonio, Sharma, Vivek, Alataris, Konstantinos, Genovese, Mark C, Baker, Matthew C

Source: In The Lancet Rheumatology April 2021 3(4):e262-e269

Serum IL-10 Levels and Its Relationship with Parasitemia in Chronic Chagas Disease Patients

Authors: Salvador, Fernando, Sánchez-Montalvá, Adrián, Martínez-Gallo, Mónica, Sulleiro, Elena, Franco-Jarava, Clara, Avilés, Augusto Sao, Bosch-Nicolau, Pau, Moure, Zaira, Silgado, Aroa, Molina, Israel

Source: American journal of tropical medicine and hygiene. 102(1):159-163

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN622751287&indx=1&recIds=ETOCRN622751287

Current perspectives in the management of sepsis and septic shock.

Authors: Chiscano-Camón, Luis, Ruiz-Sanmartin, Adolf, Bajaña, Ivan, Bastidas, Juliana, Lopez-Martinez, Rocio, Franco-Jarava, Clara, Gonzalez, Juan José, Larrosa, Nieves, Riera, Jordi, Nuvials-Casals, Xavier, Ruiz-Rodríguez, Juan Carlos, Ferrer, Ricard

Source: Frontiers in Medicine; 2024, p1-13, 13p

Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

Authors: Mensa-Vilaró, Anna, Bravo García-Morato, María, de la Calle-Martin, Oscar, Franco-Jarava, Clara, Martínez-Saavedra, María Teresa, González-Granado, Luis I., González-Roca, Eva, Fuster, Jose Luis, Alsina, Laia, Mutchinick, Osvaldo M., Balderrama-Rodríguez, Angélica, Ramos, Eduardo, Modesto, Consuelo, Mesa-del-Castillo, Pablo, Ortego-Centeno, Norberto, Clemente, Daniel, Souto, Alejandro, Palmou, Natalia, Remesal, Agustín, Leslie, Kieron S., Gómez de la Fuente, Enrique, Yadira Bravo Gallego, Luz, Campistol, Josep María, Dhouib, Naouel Guirat, Bejaoui, Mohamed, Dutra, Lívia Almeida, Terreri, Maria Teresa, Mosquera, Catalina, González, Tatiana, Cañellas, Jerónima, García-Ruiz de Morales, José María, Wouters, Carine H., Bosque, María Teresa, Cham, Weng Tarng, Jiménez-Treviño, Santiago, de Inocencio, Jaime, Bloomfield, Markéta, Pérez de Diego, Rebeca, Martínez-Pomar, Natalia, Rodríguez-Pena, Rebeca, González-Santesteban, Cecilia, Soler-Palacín, Pere, Casals, Ferran, Yagüe, Jordi, Allende, Luis M., Rodríguez-Gallego, José Carlos, Colobran, Roger, Martínez-Martínez, Laura, López-Granados, Eduardo, Aróstegui, Juan I.

Source: In The Journal of Allergy and Clinical Immunology January 2019 143(1):359-368

Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations

Authors: Dieli-Crimi, Romina, Martínez-Gallo, Mónica, Franco-Jarava, Clara, Antolin, Maria, Blasco, Laura, Paramonov, Ida, Semidey, Maria E., Álvarez Fernández, Antoni, Molero, Xavier, Velásquez, Julio, Martín-Nalda, Andrea, Pujol-Borrell, Ricardo, Colobran, Roger

Source: In Clinical Immunology October 2018 195:49-58

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6

Authors: Franco-Jarava, Clara, Wang, Hongying, Martin-Nalda, Andrea, Alvarez, de la Sierra Daniel, García-Prat, Marina, Bodet, Domingo, García-Patos, Vicenç, Plaja, Alberto, Rudilla, Francesc, Rodriguez-Sureda, Victor, García-Latorre, Laura, Aksentijevich, Ivona, Colobran, Roger, Soler-Palacín, Pere

Source: In Clinical Immunology June 2018 191:44-51

Association of HLA-B∗35 and moderate or severe cutaneous reactions secondary to benznidazole treatment in chronic chagas disease

Authors: Bosch-Nicolau, Pau, Salvador, Fernando, Sánchez-Montalvá, Adrián, Franco-Jarava, Clara, Arrese-Muñoz, Iria, Sulleiro, Elena, Roure, Silvia, Valerio, Lluis, Oliveira-Souto, Inés, Serre-Delcor, Núria, Pou, Diana, Treviño, Begoña, Aznar, María L., Espinosa-Pereiro, Juan, Molina, Israel

Source: In Clinical Microbiology and Infection June 2022 28(6):881-881

Extended immunophenotyping reference values in a healthy pediatric population

Authors: Garcia‐Prat, Marina, Álvarez‐Sierra, Daniel, Aguiló‐Cucurull, Aina, Salgado‐Perandrés, Sandra, Briongos‐Sebastian, Sara, Franco‐Jarava, Clara, Martin‐Nalda, Andrea, Colobran, Roger, Montserrat, Isabel, Hernández‐González, Manuel, Pujol‐Borrell, Ricardo, Soler‐Palacin, Pere, Martínez‐Gallo, Mónica

Source: Cytometry.Part B.Clinical cytometry. 96(3):223-233

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083704088.0x000001&indx=1&recIds=ETOCvdc_100083704088.0x000001

Systemic Inflammation Differences in Brain-vs. Circulatory-Dead Donors: Impact on Lung Transplant Recipients.

Authors: Sandiumenge, Alberto, Bello, Irene, Coll-Torres, Elisabeth, Gomez-Brey, Aroa, Franco-Jarava, Clara, Miñambres, Eduardo, Pérez-Redondo, Marina, Mosteiro, Fernando, Sánchez-Moreno, Laura, Crowley, Silvana, Fieira, Eva, Suberviola, Borja, Alan Mazo, Cristopher, Agustí, Alvar, Pont, Teresa

Source: Transplant International; 2024, p1-10, 10p

Subject Terms: LUNG transplantation, INFLAMMATION, BRAIN death, INTERLEUKIN-10, KIDNEY transplantation, INTERLEUKIN-6

Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a Factor I deficiency due to a novel homozygous mutation

Authors: Franco-Jarava, Clara, Colobran, Roger, Mestre-Torres, Jaume, Vargas, Victor, Pujol-Borrell, Ricardo, Hernández-González, Manuel

Source: In Immunology Letters June 2016 174:19-22

Catastrophic Streptococcus pyogenes Disease: A Personalized Approach Based on Phenotypes and Treatable Traits.

Authors: Ruiz-Rodríguez, Juan Carlos, Chiscano-Camón, Luis, Maldonado, Carolina, Ruiz-Sanmartin, Adolf, Martin, Laura, Bajaña, Ivan, Bastidas, Juliana, Lopez-Martinez, Rocio, Franco-Jarava, Clara, González-López, Juan José, Ribas, Vicent, Larrosa, Nieves, Riera, Jordi, Nuvials-Casals, Xavier, Ferrer, Ricard

Source: Antibiotics (2079-6382); Feb2024, Vol. 13 Issue 2, p187, 13p

Subject Terms: TOXIC shock syndrome, SOFT tissue infections, STREPTOCOCCUS pyogenes, STREPTOCOCCAL diseases, COMMUNITY-acquired infections, RENAL replacement therapy

Geographic Terms: BARCELONA (Spain)

Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.

Authors: Garcia-Prat, Marina, Batlle-Masó, Laura, Parra-Martínez, Alba, Franco-Jarava, Clara, Martinez-Gallo, Mónica, Aguiló-Cucurull, Aina, Perurena-Prieto, Janire, Castells, Neus, Urban, Blanca, Dieli-Crimi, Romina, Soler-Palacín, Pere, Colobran, Roger

Source: Journal of Clinical Immunology; Feb2024, Vol. 44 Issue 2, p1-12, 12p

Impact of placental malaria on maternal, placental and fetal cord responses and its role in pregnancy outcomes in women from Blue Nile State, Sudan

Authors: Omer, Samia, Franco-Jarava, Clara, Noureldien, Ali, Omer, Mona, Abdelrahim, Mutasim, Molina, Israel, Adam, Ishag

Source: Malaria journal. 20(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191103860.0x000001&indx=1&recIds=ETOCvdc_100191103860.0x000001

Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.

Authors: Batlle-Masó, Laura, Rivière, Jacques G., Franco-Jarava, Clara, Martín-Nalda, Andrea, Garcia-Prat, Marina, Parra-Martínez, Alba, Aguiló-Cucurull, Aina, Castells, Neus, Martinez-Gallo, Mónica, Soler-Palacín, Pere, Colobran, Roger

Source: Journal of Clinical Immunology; Nov2023, Vol. 43 Issue 8, p1953-1963, 11p

Subject Terms: CHRONIC granulomatous disease, MOSAICISM, MOLECULAR diagnosis, COMPARATIVE genomic hybridization, GENETIC disorder diagnosis

Reference values for interleukin‐6 in the amniotic fluid of asymptomatic pregnant women.

Authors: del Barco, Ester¹ (AUTHOR), Franco‐Jarava, Clara² (AUTHOR), Vargas, Mireia¹ (AUTHOR), Maíz, Nerea¹ (AUTHOR), Arevalo, Silvia¹ (AUTHOR), Sánchez, Maria Ángeles¹ (AUTHOR), Avilés, Maria Teresa¹ (AUTHOR), Rodó, Carlota¹ (AUTHOR), Mendoza, Manel¹ (AUTHOR), Goya, Maria^1,3 (AUTHOR) maria.goya@vallhebron.cat, Hernández‐González, Manuel² (AUTHOR), Carreras, Elena^1,3 (AUTHOR)

Source: Acta Obstetricia et Gynecologica Scandinavica. Apr2023, Vol. 102 Issue 4, p480-485. 6p.

Subject Terms: *AMNIOTIC liquid, *AMNIOCENTESIS, *PREGNANT women, *ASYMPTOMATIC patients, *ABORTION, *MATERNAL age

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Authors: Batlle-Masó, Laura, Garcia-Prat, Marina, Parra-Martínez, Alba, Franco-Jarava, Clara, Aguiló-Cucurull, Aina, Velasco, Pablo, Antolín, María, Rivière, Jacques G., Martín-Nalda, Andrea, Soler-Palacín, Pere, Martínez-Gallo, Mónica, Colobran, Roger

Source: Frontiers in Immunology; 11/18/2022, Vol. 13, p1-11, 11p

Subject Terms: LYMPHOPROLIFERATIVE disorders, SOMATIC mutation, T cells, GENE frequency, GENETIC variation

Geographic Terms: ALPS

Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report.

Authors: Franco-Jarava, Clara, Valenzuela, Irene, Riviere, Jacques G., Garcia-Prat, Marina, Martínez-Gallo, Mónica, Dieli-Crimi, Romina, Castells, Neus, Batlle-Masó, Laura, Soler-Palacin, Pere, Colobran, Roger

Source: Frontiers in Immunology; 6/17/2022, Vol. 13, p1-8, 8p

Subject Terms: COMMON variable immunodeficiency, NF-kappa B, CHROMOSOMES, COMPARATIVE genomic hybridization, CHROMOSOME abnormalities, AGAMMAGLOBULINEMIA

Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.

Authors: Labrador-Horrillo, Moisés, Franco-Jarava, Clara, Garcia-Prat, Marina, Parra-Martínez, Alba, Antolín, María, Salgado-Perandrés, Sandra, Aguiló-Cucurull, Aina, Martinez-Gallo, Mónica, Colobran, Roger

Source: Frontiers in Immunology; 4/8/2022, Vol. 13, p1-7, 7p

Subject Terms: COMMON variable immunodeficiency, ADAPTOR proteins, PSYCHONEUROIMMUNOLOGY, SEROTYPES, COVID-19 vaccines, IMMUNOLOGIC memory, T cells, HAEMOPHILUS influenzae