- idUS
- Listar por autor
Listar por autor "Olbrich, Peter"
Mostrando ítems 1-14 de 14
-
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, 2021-04-01)Objective: To evaluate the efficacy of colchicine therapy in pediatric patients with PFAPA syndrome who present with an ...
-
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., 2018-03)Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal dominant mutations in PIK3CD (APDS1) ...
-
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
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 ...
-
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 (2015-09-14)Introducción: Los recién nacidos prematuros extremos (< 32 semanas de edad gestacional, EG) son una población de riesgo ...
-
Artículo
Inborn errors of immunity causing pediatric susceptibility to fungal diseases
Olbrich, Peter; Vinh, Donald C. (MDPI, 2023-01-22)Inborn errors of immunity are a heterogeneous group of genetically determined disorders that compromise the immune system, ...
-
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 ...
-
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 ...
-
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
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
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, 2022-09-14)SARS-CoV-2 infection has become a global health problem specially exacerbated with the continuous appearance of new variants. ...
-
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
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., 2019-07-10)Signal transducer and activator of transcription (STAT1)1 gain of function (GOF) pathogenic variants have been associated ...