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PhD Thesis
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Asociación de polimorfismos de nucleótido simple de los genes TGFβ1 y HSPβ1 y el riesgo de mortalidad y toxicidad hematológica en pacientes con cáncer de pulmón tratados con radio(quimio)terapia
(2023-05-10)
La toxicidad hematológica (TH) puede comprometer la administración de tratamientos oncológicos tanto sistémicos como rádicos en pacientes con cáncer de pulmón (CP), lo que podría afectar a los resultados en términos de ...
Article
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Secondary C1q Deficiency in Activated PI3K delta Syndrome Type 2
(Frontiers Media S.A., 2019)
Monogenic forms of vasculitis are rare but increasingly recognized. Furthermore, genetic immunodeficiency is increasingly associated with inflammatory immune dysregulatory features, including vasculitis. This case report ...
Article
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Primary and Secondary Immunodeficiency Diseases in Oncohaematology: Warning Signs, Diagnosis, and Management
(Frontiers Media S.A., 2019)
Background: Immunodeficiencies (ID), in particular primary immunodeficiencies (PID), are often associated with haematological manifestations, such as peripheral cytopenias or lymphoproliferative syndromes. Early diagnosis ...
Article
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Disease evolution and response to rapamycin in Activated Phosphoinositide 3-Kinase delta syndrome: the european society for immunodeficiencies-Activated Phosphoinositide 3-Kinase d syndrome registry
(Frontiers Media S.A., 2018-03)
Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal dominant mutations in PIK3CD (APDS1) or PIK3R1 (APDS2), is a heterogeneous primary immunodeficiency. While initial cohort-descriptions ...
Article
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STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation
(Frontiers Media S.A., 2019-07-10)
Signal transducer and activator of transcription (STAT1)1 gain of function (GOF) pathogenic variants have been associated with increased levels of phosphorylated STAT1 and STAT1-dependent cellular responses. Delayed ...