Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Luis I. González-Granado"'
1
Akademický článek
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management
Autor: Marta López-Nevado, Luis I. González-Granado, Raquel Ruiz-García, Daniel Pleguezuelo, Oscar Cabrera-Marante, Nerea Salmón, Pilar Blanco-Lobo, Nerea Domínguez-Pinilla, Rebeca Rodríguez-Pena, Elena Sebastián, Jaime Cruz-Rojo, Peter Olbrich, Jesús Ruiz-Contreras, Estela Paz-Artal, Olaf Neth, Luis M. Allende
Publikováno v: Frontiers in Immunology, Vol 12 (2021)
Primary immune regulatory disorders (PIRD) are associated with autoimmunity, autoinflammation and/or dysregulation of lymphocyte homeostasis. Autoimmune lymphoproliferative syndrome (ALPS) is a PIRD due to an apoptotic defect in Fas-FasL pathway and
Externí odkaz: https://doaj.org/article/22fefb239cc74ff2812ef5fa1d1e83e7
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3
Akademický článek
A case of IL-7R deficiency caused by a novel synonymous mutation and implications for mutation screening in SCID diagnosis.
Autor: 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
Publikováno v: Frontiers in Immunology, Vol 7 (2016)
Reported synonymous substitutions are generally non-pathogenic and rare pathogenic synonymous variants may be disregarded unless there is a high index of suspicion. In a case of IL7 receptor deficiency SCID, the relevance of a non-reported synonymous
Externí odkaz: https://doaj.org/article/23892115752e413987fa236584304422
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Plný text Recenzováno Digitální knihovna AV ČR
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