Síndromes hemofagocíticos: la importancia del diagnóstico y tratamiento precoces

by Itziar Astigarraga, Luis I. Gonzalez-Granado, Luis M. Allende, Laia Alsina
Published 2018-08-01

Haemophagocytic syndromes: the importance of early diagnosis and treatment

by Itziar Astigarraga, Luis I. Gonzalez-Granado, Luis M. Allende, Laia Alsina
Published 2018-08-01

A case of IL-7R deficiency caused by a novel synonymous mutation and implications for mutation screening in SCID diagnosis.

by FERNANDO GALLEGO-BUSTOS, VALER GOTEA, JOSE T RAMOS-AMADOR, REBECA RODRIGUEZ-PENA, JUANA GIL, ANA SASTRE, AITOR DELMIRO, GHADI RAI, LAURA ELNITSKI, LUIS I GONZÁLEZ-GRANADO, LUIS M ALLENDE
Published 2016-10-01

Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management

by Marta López-Nevado, Marta López-Nevado, Luis I. González-Granado, Luis I. González-Granado, Raquel Ruiz-García, Daniel Pleguezuelo, Daniel Pleguezuelo, Oscar Cabrera-Marante, Oscar Cabrera-Marante, Nerea Salmón, Nerea Salmón, Pilar Blanco-Lobo, Nerea Domínguez-Pinilla, Nerea Domínguez-Pinilla, Rebeca Rodríguez-Pena, Elena Sebastián, Jaime Cruz-Rojo, Peter Olbrich, Jesús Ruiz-Contreras, Jesús Ruiz-Contreras, Jesús Ruiz-Contreras, Estela Paz-Artal, Estela Paz-Artal, Estela Paz-Artal, Olaf Neth, Luis M. Allende, Luis M. Allende, Luis M. Allende
Published 2021-08-01

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

by Elena G. Arias-Salgado, Eva Galvez, Lurdes Planas-Cerezales, Laura Pintado-Berninches, Elena Vallespin, Pilar Martinez, Jaime Carrillo, Laura Iarriccio, Anna Ruiz-Llobet, Albert Catalá, Isabel Badell-Serra, Luis I. Gonzalez-Granado, Andrea Martín-Nalda, Mónica Martínez-Gallo, Ana Galera-Miñarro, Carmen Rodríguez-Vigil, Mariana Bastos-Oreiro, Guiomar Perez de Nanclares, Virginia Leiro-Fernández, Maria-Luz Uria, Cristina Diaz-Heredia, Claudia Valenzuela, Sara Martín, Belén López-Muñiz, Pablo Lapunzina, Julian Sevilla, María Molina-Molina, Rosario Perona, Leandro Sastre
Published 2019-04-01

Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies

by Mahya Dezfouli, Mahya Dezfouli, Sofia Bergström, Lillemor Skattum, Lillemor Skattum, Hassan Abolhassani, Hassan Abolhassani, Maja Neiman, Monireh Torabi-Rahvar, Clara Franco Jarava, Andrea Martin-Nalda, Juana M. Ferrer Balaguer, Charlotte A. Slade, Charlotte A. Slade, Anja Roos, Luis M. Fernandez Pereira, Margarita López-Trascasa, Luis I. Gonzalez-Granado, Luis M. Allende-Martinez, Yumi Mizuno, Yusuke Yoshida, Vanda Friman, Åsa Lundgren, Asghar Aghamohammadi, Nima Rezaei, Manuel Hernández-Gonzalez, Ulrika von Döbeln, Lennart Truedsson, Toshiro Hara, Shigeaki Nonoyama, Jochen M. Schwenk, Peter Nilsson, Lennart Hammarström
Published 2020-03-01