idUS - Perfil del autor: Olbrich, Peter

Autorice su foto

Nombre	Olbrich, Peter
Departamento	Farmacología, Pediatría y Radiología
Área de conocimiento	Pediatría
Categoría profesional	Profesor Permanente Laboral-Mod.PCD (V)
Correo electrónico	Solicitar

Nº publicaciones

14
Nº visitas

1011
Nº descargas

1755

Tipología

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Publicaciones
Artículo Inborn errors of immunity causing pediatric susceptibility to fungal diseases Olbrich, Peter; Vinh, Donald C. (MDPI, 2023) Inborn errors of immunity are a heterogeneous group of genetically determined disorders that compromise the immune system, ...
Artículo SARS-CoV-2 Seroprevalence Study in Pediatric Patients and Health Care Workers Using Multiplex Antibody Immunoassays Prados de la Torre, Esther; Obando Santaella, Ignacio; Vidal, Marta; Felipe, Beatriz de; Aguilar, Ruth; Izquierdo, Luis; Olbrich, Peter; Dobaño, Carlota (MDPI, 2022) SARS-CoV-2 infection has become a global health problem specially exacerbated with the continuous appearance of new variants. ...
Artículo Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations—10 Children and Review of the Literature Deyà-Martínez, Angela; Rivière, Jaques G.; Roxo-Junior, Pérsio; Ramakers, Jan; Bloomfield, Markéta; Guisado Hernandez, Paloma; Olbrich, Peter (SPRINGER, 2022) Introduction Since the frst description of gain of function (GOF) mutations in signal transducer and activator of transcrip ...
Artículo Ex vivo efect of JAK inhibition on JAK‑STAT1 pathway hyperactivation in patients with dominant‑negative STAT3 mutations Blanco Lobo, Pilar; Guisado Hernández, Paloma; Villaoslada, Isabel; Felipe, Beatriz de; Carreras, Carmen; Rodriguez, Hector; Olbrich, Peter (SPRINGER, 2022) Purpose STAT1 gain-of-function (GOF) and dominant-negative (DN) STAT3 syndromes share clinical manifestations includ ing ...
Artículo Examining the immune signatures of SARS-CoV-2 infection in pregnancy and the impact on neurodevelopment: protocol of the SIGNATURE longitudinal study Garrido-Torres, Nathalia; Cerrillos, Lucas; García Cerro, Susana; Pérez Gómez, Alberto; Canal-Rivero, Manuel; Felipe, Beatriz de; López Díaz, Álvaro; Romero García, Rafael; Olbrich, Peter; Cisneros, José Miguel; Crespo Facorro, Benedicto; Ruiz Veguilla, Miguel (FRONTIERS MEDIA SA, 2022) The COVID-19 pandemic represents a valuable opportunity to carry out cohort studies that allow us to advance our knowledge ...
Artículo Colchicine treatment in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome: A multicenter study in Spain Quintana-Ortega, Cristian; Seoane Reula, Elena; Fernández, Laura; Camacho, Marisol; Olbrich, Peter; Neth, Olaf; Murias, Sara; Udaondo, Clara; Remesal, Agustín; Calvo, Cristina; Alcobendas, Rosa (AVES, 2021) Objective: To evaluate the efficacy of colchicine therapy in pediatric patients with PFAPA syndrome who present with an ...
Artículo Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management López-Nevado, Marta; González-Granado, Luis I.; Ruiz-García, Raquel; Pleguezuelo, Daniel; Cabrera-Marante, Oscar; Salmón, Nerea; Olbrich, Peter; Allende, Luis M. (Frontiers Media, 2021) Primary immune regulatory disorders (PIRD) are associated with autoimmunity, autoinflammation and/or dysregulation of ...
Artículo Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations Thalhammer, Julian; Kindle, Gerhard; Nieters, Alexandra; Rusch, Stephan; Seppänen, Mikko R.J.; Olbrich, Peter (Mosby-Elsevier, 2021) Background Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of ...
Artículo STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation Zimmerman, O.; Olbrich, Peter; Freeman, A.F.; Rosen, Lindsey B.; Uzel, G.; Zerbe, C.S.; Rosenzweig, S.D.; Kuehn, H.S.; Holland, Stephen M. (Frontiers Media S.A., 2019) Signal transducer and activator of transcription (STAT1)1 gain of function (GOF) pathogenic variants have been associated ...
Artículo Secondary C1q Deficiency in Activated PI3K delta Syndrome Type 2 Hong, Y.; Nanthapisal, S.; Omoyinmi, E.; Olbrich, Peter; Neth, O.; Speckmann, C.; Lucena, J.M.; Gilmour, K.; Genomics England Res Consortium; Zarowiecki, M. (Frontiers Media S.A., 2019) Monogenic forms of vasculitis are rare but increasingly recognized. Furthermore, genetic immunodeficiency is increasingly ...
Artículo Primary and Secondary Immunodeficiency Diseases in Oncohaematology: Warning Signs, Diagnosis, and Management Sánchez Ramón, Silvia; Bermúdez, Arancha; González Granado, Luis Ignacio; Rodríguez Gallego, Carlos; Sastre, Ana; Soler Palacín, Pere; ID Signal Oncohaematology Grp; Olbrich, Peter (Frontiers Media S.A., 2019) Background: Immunodeficiencies (ID), in particular primary immunodeficiencies (PID), are often associated with haematological ...
Artículo 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 Maccari, Maria Elena; Abolhassani, H.; Aghamohammadi, A; Aiuti, A,; Aleinikova, O.; Bangs, C.; Olbrich, Peter; Ehl, S. (Frontiers Media S.A., 2018) Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal dominant mutations in PIK3CD (APDS1) or ...
Artículo Newborn Screening for Primary T- and B-Cell Immune Deficiencies—A Prospective Study in Andalucía Felipe, Beatriz de; Olbrich, Peter; Goycochea Valdivia, Walter; Delgado Pecellín, Carmen; Sánchez Moreno, Paula; Sánchez Sánchez, Berta; Lucena Soto, José Manuel; Ferrari Cortés, Araceli; Salguero Martín de Soto, Josefa (MDPI, 2017) Background: Quantification of T-cell-receptor-excision circles (TRECs) and kappa-deleting-recombination-excision circles ...
Tesis Doctoral Impacto de la lecitina de unión a la manosa (MBL) y beta-defensina 2 en la susceptibilidad frente a infecciones en neonatos prematuros extremos Olbrich, Peter; Pachón Díaz, Jerónimo; Pavón Delgado, Antonio; Nefh, Olaf (2015) Introducción: Los recién nacidos prematuros extremos (< 32 semanas de edad gestacional, EG) son una población de riesgo ...