Translational Immunology

Batlle-Masó L, Rivière JG, Franco-Jarava C, Martín-Nalda A, Garcia-Prat M, Parra-Martínez A, Aguiló-Cucurull A, Castells N, Martinez-Gallo M, Soler-Palacín P, Colobran R.
Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.
J Clin Immunol. 2023 Nov;43(8):1953-1963.
DOI: 10.1007/s10875-023-01556-x
IF: 9.1

Perurena-Prieto J, Viñas-Giménez L, Sanz-Martínez MT, Selva-O'Callaghan A, Callejas-Moraga EL, Colobran R, Del-Castillo AG, Simeón-Aznar CP.
Anti-nuclear valosin-containing protein-like autoantibody is associated with calcinosis and higher risk of cancer in systemic sclerosis.
Rheumatology (Oxford). 2023 Sep 28:kead520.
DOI: 10.1093/rheumatology/kead520
IF: 5.5

García-Aznar JM, Maneiro Pampín E, García Ramos M, Acuña Pérez MJ, Paz Gandiaga N, Minguell Domingo L, Calavia O, Soler-Palacin P, Colobran R, Novoa Bolívar EM, Ocejo Vinyals JG.
Novel frameshift variants expand the map of the genetic defects in IRF2BP2.
Front Immunol. 2023 Oct 9:14:1279171
DOI: 10.3389/fimmu.2023.1279171
IF: 7.3

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Peng Zhang, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qian Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik Van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst Von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Genome Med. 2023 Apr 5;15(1):22.
DOI: 10.1186/s13073-023-01173-8
IF: 15.2

Álvarez-Sierra D, Rodríguez-Grande J, Gómez-Brey A, Bello I, Caubet E, González Ó, Zafón C, Iglesias C, Moreno P, Ruiz N, Marín-Sánchez A, Colobran R, Pujol-Borrell R.
Single cell transcriptomic analysis of Graves’ disease thyroid glands reveals the broad immunoregulatory potential of thyroid follicular and stromal cells and implies a major re-interpretation of the role of aberrant HLA class II expression in autoimmunity.
J Autoimmun. 2023 Sep;139:103072.
DOI: 10.1016/j.jaut.2023.103072
IF: 12.8