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Inborn Errors of Immunity Adolescents at School
Artículo
Acceso abierto Artículo DOAJ
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 eng
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Journal of Human Immunity
Artículo
Acceso abierto Artículo DOAJ
Journal of Human Immunity
Rockefeller University Press; United States · ISSN 3065-8993
Materias / palabras clave: inborn errors of immunity, clinical phenotypes, infections and auto-antibodies, phenocopies of inborn errors, severe immunodeficiencies, t cell deficiencies; Medicine: Internal medicine: Specialties of internal medicine:...
Idioma English
Disponibilidad institucional: Acceso abierto · 1 disponibilidad(es) · Proveedor: DOAJ · Colección: DOAJ - Open Access Journals
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Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature
Artículo
Acceso abierto Artículo CONICET Digital
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 eng
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A Survey-Based Study of Reproductive Health Practices by Immunologists of the Clinical Immunology Society in Patients with Inborn Errors of Immunity
Artículo
Material complementario disponible Artículo DOAJ
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 eng
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An Interpretable, Artificial Intelligence-Empowered Mortality Risk Score for Inborn Errors of Immunity
Artículo
Material complementario disponible Artículo DOAJ
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 eng
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Beyond Inborn Errors of Immunity: Brazilian Newborn Screening with KRECs Enabling Early Diagnosis of Hematologic Disorders
Artículo
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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 eng
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Characterizing Pulmonary Gas Exchange in Inborn Errors of Immunity Using Hyperpolarized Xenon MRI
Artículo
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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 eng
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Diagnostic Yield and Advantages of Exome/Genome Sequencing in Inborn Errors of Immunity
Artículo
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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 eng
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Elucidating the Pathogenesis of Chronic Norovirus in Inborn Errors of Immunity: Lessons from Single-Cell Transcriptomics of Biopsies and Patient-Derived Organoids
Artículo
Acceso abierto Artículo DOAJ
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 eng
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Immunogenetic Screening Reveals Hidden Inborn Errors of Immunity in Pediatric Lymphoproliferative Disorders
Artículo
Acceso abierto Artículo DOAJ
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 eng
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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
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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 eng
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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
Material complementario disponible Artículo DOAJ
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 eng
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Introducing the MIRACLE Task Force: Maternal Immunity, Reproduction, and Inborn Errors of Immunity Collaboration
Artículo
Material complementario disponible Artículo DOAJ
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 eng
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Newborn Screening Inborn Errors of Immunity in the Republic of Belarus: The First Pilot Study
Artículo
Acceso abierto Artículo DOAJ
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 eng
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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
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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 eng
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Inborn Errors of T Cell Topographic Memory Underlie Organ-Selective Infectious Diseases
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Inborn Errors of T Cell Topographic Memory Underlie Organ-Selective Infectious Diseases
Ahmad Yatim et al · Rockefeller University Press · 2026 · ISSN 3065-8993
Background and AimMost infections are innocuous in most individuals, and most infectious diseases are confined to specific organs. Inborn errors of tissue-intrinsic, non-leukocytic immunity underlie some organ-specific i...
LCC LCC:Immunologic diseases. AllergyIdioma eng
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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
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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 eng
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Characteristics of Patients with Predominantly Antibody Deficiencies Undergoing Genetic Testing
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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 eng
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Clinical Implications of Novel Monoallelic STAT6 Gain-of Function Variants
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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 eng
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Combined B Cell Aplasia and Hypereosinophilia as a Complication of Lamotrigine Therapy
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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 eng
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Functional Validation of an ADA Variant in Secondary HLH Reveals Delayed Onset ADA-SCID
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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 eng
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Investigating Hidden Drivers of Progressive Multifocal Leukoencephalopathy in the NIH Natural History Cohort
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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 eng
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Multiomic Characterization of Treatment Response to JAK Inhibition in Patients with APECED
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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 eng
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Nibling of MHC Class II by Tfh Cells—Possible Role in Isotype Switching and Affinity Maturation
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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 eng
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