Evolution of Gene Therapy for Inborn Errors of Immunity.
Sign Up to like & getrecommendations! Published in 2024 at "JAMA pediatrics"
DOI: 10.1001/jamapediatrics.2024.1116
Abstract: This Viewpoint reviews the history and current state of gene therapy for inborn errors of immunity. read more here.
Keywords: inborn errors; therapy inborn; errors immunity; gene therapy ... See more keywords
Tip of the iceberg: A comprehensive review of liver disease in Inborn errors of immunity
Sign Up to like & getrecommendations! Published in 2022 at "Hepatology"
DOI: 10.1002/hep.32539
Abstract: Inborn errors of immunity (IEIs) consist of numerous rare, inherited defects of the immune system that affect about 500,000 people in the United States. As advancements in diagnosis through genetic testing and treatment with targeted… read more here.
Keywords: iceberg comprehensive; comprehensive review; liver; inborn errors ... See more keywords
Pediatric inborn errors of immunity causing hemophagocytic lymphohistiocytosis: Case report and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Leukocyte Biology"
DOI: 10.1002/jlb.5mr0622-037r
Abstract: 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, allergy and malignancies. In… read more here.
Keywords: inborn errors; review; hemophagocytic lymphohistiocytosis; case ... See more keywords
Pediatric and Adult Inborn Errors of Immunity and COVID‐19: A Comparative Study
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DOI: 10.1002/jmv.70550
Abstract: COVID‐19 has worse clinical outcomes in inborn errors of immunity (IEI) patients. We aimed to determine COVID‐19‐related hospitalization/ICU admission/mortality risk in patients with IEI. We included 62 COVID‐19 (29 children and 33 adults) in a… read more here.
Keywords: mortality; hospitalization; errors immunity; deficiency ... See more keywords
Inborn errors of immunity presenting with lymphoproliferation: lessons from a case series
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DOI: 10.1007/s00277-025-06456-1
Abstract: Lymphoproliferation can represent the first or leading disease sign in different inborn errors of immunity (IEI), which include autoimmune lymphoproliferative syndrome (ALPS), common variable immunodeficiency (CVID), combined immunodeficiencies, activated phosphoinositide 3-kinase δ syndrome (APDS), Epstein-Barr… read more here.
Keywords: presenting lymphoproliferation; errors immunity; lymphoproliferation; case ... See more keywords
Genetic susceptibility to EBV infection: insights from inborn errors of immunity
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DOI: 10.1007/s00439-020-02145-3
Abstract: Epstein–Barr virus (EBV) is a ubiquitous human pathogen, infecting > 90% of the adult population. In the vast majority of healthy individuals, infection with EBV runs a relatively benign course. However, EBV is by no means a… read more here.
Keywords: ebv infection; ebv; susceptibility; infection ... See more keywords
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-020-00798-3
Abstract: Purpose Owing to recent technological advancements, using next-generation sequencing (NGS) and the accumulation of clinical experiences worldwide, more than 420 genes associated with inborn errors of immunity (IEI) have been identified, which exhibit large genotypic… read more here.
Keywords: exome sequencing; errors immunity; whole exome; mutations patients ... See more keywords
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-024-01664-2
Abstract: Human inborn errors of immunity (IEI) comprise a group of diseases resulting from molecular variants that compromise innate and adaptive immunity. Clinical features of IEI patients are dominated by susceptibility to a spectrum of infectious… read more here.
Keywords: immune dysregulation; immunity; human inborn; errors immunity ... See more keywords
AIOLOS-Associated Inborn Errors of Immunity
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DOI: 10.1007/s10875-024-01730-9
Abstract: AIOLOS, encoded by the IKZF3 gene, belongs to the Ikaros zinc finger transcription factor family and plays a pivotal role in regulating lymphocyte development. Recently, heterozygous missense loss-of-function variants within the DNA-binding domain of the… read more here.
Keywords: inborn errors; aiolos associated; errors immunity; associated inborn ... See more keywords
Malignancy and Autoimmune Susceptibility in Adult Patients with Human Inborn Errors of Immunity
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-025-01935-6
Abstract: Inborn errors of immunity (IEI) are a heterogeneous group of genetic disorders that disrupt the normal development and function of the immune system. These diseases not only increase susceptibility to infections but also significantly elevate… read more here.
Keywords: susceptibility; malignancy; errors immunity; autoimmune diseases ... See more keywords
“I am sick, but that’s not all that I am”: patient perspectives on psychological adaptation over time to inborn errors of immunity
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Community Genetics"
DOI: 10.1007/s12687-024-00758-z
Abstract: Inborn errors of immunity (IEI) are rare heritable disorders of the immune system predisposing to atypical infections, autoimmunity, inflammation, and risk of malignancy. Adaptation is the process of incorporating stressful experiences into one’s life; these… read more here.
Keywords: sick patient; adaptation; patient perspectives; time ... See more keywords