Novedades Ayuda Acceso institucional

Buscar recursos académicos

Explorá catálogos institucionales, recursos electrónicos, revistas de acceso abierto, colecciones disponibles y enlaces de consulta académica.

Búsqueda avanzada
Qué reúne NODOVOX Discovery: Catálogos institucionales, recursos electrónicos, revistas de acceso abierto, colecciones disponibles y enlaces de consulta académica.
medicina forense derecho revistas Open Access texto completo

Resultados

44 resultados encontrados.

Tipos de recurso: Libro físico Libro electrónico Artículo Revista Tesis Capítulo
Búsqueda académica
Inborn Errors of Immunity Adolescents at School
Artículo
Artículo
Inborn Errors of Immunity Adolescents at School
Jacques G. Rivière et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundAdolescents with inborn errors of immunity (IEI) experience disease-related absenteeism and psychosocial challenges that can compromise schooling. Evidence integrating perspectives across stakeholders is limite...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature
Artículo
Artículo
Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature
Caldirola, Maria Soledad et al · Federation of American Societies for Experimental Biology · 2022 · ISSN 0741-5400
Inborn errors of immunity are a group of genetic disorders caused by mutations that affect the development and/or function of several compartments of the immune system, predisposing patients to infections, autoimmunity, ...
Idioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
A Survey-Based Study of Reproductive Health Practices by Immunologists of the Clinical Immunology Society in Patients with Inborn Errors of Immunity
Artículo
Artículo
A Survey-Based Study of Reproductive Health Practices by Immunologists of the Clinical Immunology Society in Patients with Inborn Errors of Immunity
Jessica Galant-Swafford et al · Rockefeller University Press · 2026 · ISSN 3065-8993
IntroductionIndividuals with inborn errors of immunity (IEI) are increasingly reaching reproductive age, yet guidance on fertility preservation, genetic counseling, medication adjustments in pregnancy and breastfeeding, ...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
An Interpretable, Artificial Intelligence-Empowered Mortality Risk Score for Inborn Errors of Immunity
Artículo
Artículo
An Interpretable, Artificial Intelligence-Empowered Mortality Risk Score for Inborn Errors of Immunity
Liangying Liu et al · Rockefeller University Press · 2026 · ISSN 3065-8993
One foundational goal of global health and a shared inspiration for all humankind is to reduce premature mortality from preventable and treatable conditions. This imperative becomes markedly more urgent for the uniquely ...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Beyond Inborn Errors of Immunity: Brazilian Newborn Screening with KRECs Enabling Early Diagnosis of Hematologic Disorders
Artículo
Artículo
Beyond Inborn Errors of Immunity: Brazilian Newborn Screening with KRECs Enabling Early Diagnosis of Hematologic Disorders
Paola Suhet et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundNewborn screening (NBS) with kappa-deleting recombination excision circles (KRECs) is primarily used to detect B cell lymphopenia and agammaglobulinemia as markers of inborn errors of immunity (IEIs). However, ...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Characterizing Pulmonary Gas Exchange in Inborn Errors of Immunity Using Hyperpolarized Xenon MRI
Artículo
Artículo
Characterizing Pulmonary Gas Exchange in Inborn Errors of Immunity Using Hyperpolarized Xenon MRI
Ernest Hoptioncann et al · Rockefeller University Press · 2026 · ISSN 3065-8993
RationaleInborn errors of immunity (IEIs) predispose individuals to recurrent respiratory infections and immune dysregulation, which together can drive inflammatory lung complications, including interstitial lung disease...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Diagnostic Yield and Advantages of Exome/Genome Sequencing in Inborn Errors of Immunity
Artículo
Artículo
Diagnostic Yield and Advantages of Exome/Genome Sequencing in Inborn Errors of Immunity
Bobbi McGivern et al · Rockefeller University Press · 2026 · ISSN 3065-8993
The rapid annual increase in conditions classified as inborn errors of immunity (IEI), along with associated genetic variants, creates diagnostic challenges. The comprehensive nature of exome sequencing (ES) and genome s...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Elucidating the Pathogenesis of Chronic Norovirus in Inborn Errors of Immunity: Lessons from Single-Cell Transcriptomics of Biopsies and Patient-Derived Organoids
Artículo
Artículo
Elucidating the Pathogenesis of Chronic Norovirus in Inborn Errors of Immunity: Lessons from Single-Cell Transcriptomics of Biopsies and Patient-Derived Organoids
Jessica Durkee-Shock et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Chronic norovirus infection (CNI) causes significant morbidity and mortality in immunocompromised patients, including those with inborn errors of immunity (IEI). Gastrointestinal samples from patients with CNI demonstrat...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Immunogenetic Screening Reveals Hidden Inborn Errors of Immunity in Pediatric Lymphoproliferative Disorders
Artículo
Artículo
Immunogenetic Screening Reveals Hidden Inborn Errors of Immunity in Pediatric Lymphoproliferative Disorders
Martina Burattin et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Background and AimsPediatric lymphoproliferative disorders (LPD), both malignant and nonmalignant, may conceal underlying inborn errors of immunity (IEI), yet systematic screening is rarely performed. We hypothesized tha...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Impact and Perspectives of Registry-Based Research in Inborn Errors of Immunity/Primary Immune Disorders: Insights from the ESID Registry of 36,681 Patients
Artículo
Artículo
Impact and Perspectives of Registry-Based Research in Inborn Errors of Immunity/Primary Immune Disorders: Insights from the ESID Registry of 36,681 Patients
Markus G. Seidel · Rockefeller University Press · 2026 · ISSN 3065-8993
Clinical research and real-world observational studies are essential for advancing the diagnosis and treatment of rare diseases, such as inborn errors of immunity/primary immune disorders (IEI/PID). To support efficient ...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Innovations in Care of Inborn Errors of Immunity in Brazil: CNE3I, the Brazilian National Center for Inborn Errors of Immunity and Immune Dysregulation Diseases
Artículo
Artículo
Innovations in Care of Inborn Errors of Immunity in Brazil: CNE3I, the Brazilian National Center for Inborn Errors of Immunity and Immune Dysregulation Diseases
Leonardo Mendonca et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Inborn errors of immunity (IEI), once considered rare, are more common than previously thought, affecting up to 1:1000 individuals, with 555 IEI identified involving variants in 546 genes. This expanded genetic and clini...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Introducing the MIRACLE Task Force: Maternal Immunity, Reproduction, and Inborn Errors of Immunity Collaboration
Artículo
Artículo
Introducing the MIRACLE Task Force: Maternal Immunity, Reproduction, and Inborn Errors of Immunity Collaboration
Jessica Galant-Swafford et al · Rockefeller University Press · 2026 · ISSN 3065-8993
IntroductionThe MIRACLE Task Force is a multidisciplinary, multi-institutional work group comprising immunology, genetics, obstetrics/gynecology, and maternal fetal medicine providers dedicated to understanding reproduct...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso institucional disponibleEl acceso puede requerir institución, suscripción, proxy, VPN o autenticación.
Institucional
Ver opciones de acceso Ficha bibliográfica
Newborn Screening Inborn Errors of Immunity in the Republic of Belarus: The First Pilot Study
Artículo
Artículo
Newborn Screening Inborn Errors of Immunity in the Republic of Belarus: The First Pilot Study
E.A. Polyakova et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Background and AimsThe primary focus of neonatal screening is the early detection of asymptomatic infants with a range of serious diseases for which effective treatment is available and for which early diagnosis and inte...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Prospective Clinical Trial of Mycophenolate Mofetil (MMF) Duration De-Escalation in Allogeneic Hematopoietic Cell Transplantation (HCT) for Inborn Errors of Immunity: Is MMF Dispensable After Reduced Intensity Conditioning, Posttransplantation Cyclophosphamide(Ptcy)-Based HCT?
Artículo
Artículo
Prospective Clinical Trial of Mycophenolate Mofetil (MMF) Duration De-Escalation in Allogeneic Hematopoietic Cell Transplantation (HCT) for Inborn Errors of Immunity: Is MMF Dispensable After Reduced Intensity Conditioning, Posttransplantation Cyclophosphamide(Ptcy)-Based HCT?
Dimana Dimitrova et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Hematopoietic cell transplantation (HCT) offers curative potential for inborn errors of immunity (IEI) patients, who often enter HCT with significant comorbidities and disease sequelae, active infections, and/or limited ...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
The Hao-Fountain Syndrome Gene USP7 Restricts Neurotropic Orthoflavivirus Entry via Intrinsic Antiviral Activity
Artículo
Artículo
The Hao-Fountain Syndrome Gene USP7 Restricts Neurotropic Orthoflavivirus Entry via Intrinsic Antiviral Activity
Boris Bonaventure et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Inborn errors of immunity (IEI) can manifest with neurological disorders, indicating genetic overlap between immune and nervous system diseases. However, neurological disorder genes are rarely screened systematically for...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
IEI Subphenotype Recognition Using Unsupervised Machine Learning on a National IEI Cohort with Clinical Validation
Artículo
Artículo
IEI Subphenotype Recognition Using Unsupervised Machine Learning on a National IEI Cohort with Clinical Validation
Alexandra Martinson et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Inborn errors of immunity (IEI) are increasing in number, and prompt recognition and diagnosis remain a challenge for clinicians. Use of machine learning (ML) for clinical pattern recognition is promising but has been li...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
An Atypical Case of X-Linked Agammaglobulinemia: A Male Child with a Pathogenic Variant in BTK with Preserved IgG and IgM Production and Responsiveness to Tetanus Vaccine
Artículo
Artículo
An Atypical Case of X-Linked Agammaglobulinemia: A Male Child with a Pathogenic Variant in BTK with Preserved IgG and IgM Production and Responsiveness to Tetanus Vaccine
Nicole Soucy et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundX-Linked agammaglobulinemia (XLA) is characterized by absent B cell development due to defects in the BTK gene. Patients with this condition have B cell aplasia as well as agammaglobulinemia and impaired vaccin...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Characteristics of Patients with Predominantly Antibody Deficiencies Undergoing Genetic Testing
Artículo
Artículo
Characteristics of Patients with Predominantly Antibody Deficiencies Undergoing Genetic Testing
Kevin Ackerman et al · Rockefeller University Press · 2026 · ISSN 3065-8993
RationaleGenetic testing can reveal a molecular diagnosis in 20–40% of patients with inborn errors of immunity (IEI) such as predominantly antibody deficiencies (PAD), though this varies by IEI type and other factors. ...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Clinical Implications of Novel Monoallelic STAT6 Gain-of Function Variants
Artículo
Artículo
Clinical Implications of Novel Monoallelic STAT6 Gain-of Function Variants
Julia Körholz et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundPrimary atopic disorders (PADs) are monogenic inborn errors of immunity marked by severe allergic disease. Heterozygous gain-of-function (GOF) variants in STAT6 have recently been recognized as a PAD associated...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Combined B Cell Aplasia and Hypereosinophilia as a Complication of Lamotrigine Therapy
Artículo
Artículo
Combined B Cell Aplasia and Hypereosinophilia as a Complication of Lamotrigine Therapy
Katherine Michaelis et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundAlthough drug rash with eosinophilia and systemic symptoms (DRESS) and anticonvulsant hypersensitivity syndrome are well-known complications of anti-seizure medications (ASMs), lesser-known immunologic complica...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Functional Validation of an ADA Variant in Secondary HLH Reveals Delayed Onset ADA-SCID
Artículo
Artículo
Functional Validation of an ADA Variant in Secondary HLH Reveals Delayed Onset ADA-SCID
Jenny Patel et al · Rockefeller University Press · 2026 · ISSN 3065-8993
IntroductionHyperinflammatory and hemophagocytic lymphohistiocytosis (HLH)-like presentations are increasingly recognized as clinical “red flags” for inborn errors of immunity (IEI), including severe combined immunod...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Investigating Hidden Drivers of Progressive Multifocal Leukoencephalopathy in the NIH Natural History Cohort
Artículo
Artículo
Investigating Hidden Drivers of Progressive Multifocal Leukoencephalopathy in the NIH Natural History Cohort
Busranur Agac et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundProgressive multifocal leukoencephalopathy (PML) is a rare opportunistic brain infection caused by the JC virus, and idiopathic PML is increasingly recognized. Deeper profiling of such patients often reveals oc...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Multiomic Characterization of Treatment Response to JAK Inhibition in Patients with APECED
Artículo
Artículo
Multiomic Characterization of Treatment Response to JAK Inhibition in Patients with APECED
Iivo Hetemaeki et al · Rockefeller University Press · 2026 · ISSN 3065-8993
BackgroundAutoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inborn error of immunity caused by loss-of-function of the AIRE gene. Lack of AIRE impairs thymic negative selection of T cells, cau...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
Nibling of MHC Class II by Tfh Cells—Possible Role in Isotype Switching and Affinity Maturation
Artículo
Artículo
Nibling of MHC Class II by Tfh Cells—Possible Role in Isotype Switching and Affinity Maturation
Rajni Kumrah et al · Rockefeller University Press · 2026 · ISSN 3065-8993
IntroductionTrogocytosis is an intracellular transfer of membrane and membrane-associated proteins in a cell–cell contact manner. Trogocytosis plays an important role in immune regulation. We hypothesized that trogocyt...
LCC LCC:Immunologic diseases. AllergyIdioma Inglés
Acceso abiertoRuta libre sin proxy. Acceso recomendado cuando no hay suscripción activa.
Open Access
Ver opciones de acceso Ficha bibliográfica
NODITO
Asistencia de búsqueda académica
Te ayudo a buscar, encontrar y acceder a recursos académicos.
Consultar con NODITO
¿Qué necesitás hacer?
Consultas rápidas
NODITO Asistencia contextual NDX