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
Genetic susceptibility to EBV infection: insights from inborn errors of immunity
Sign Up to like & getrecommendations! Published in 2020 at "Human Genetics"
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
Infection and autoinflammation in inborn errors of immunity: brothers in arms.
Sign Up to like & getrecommendations! Published in 2021 at "Current opinion in immunology"
DOI: 10.1016/j.coi.2021.08.004
Abstract: The binary view of inborn errors of immunity classified as either autoinflammatory conditions or primary immunodeficiency in the strict sense, that is, increased susceptibility to infection is challenged by the description of recent inborn errors… read more here.
Keywords: inborn errors; infection autoinflammation; immunology; errors immunity ... See more keywords
Repercussions of inborn errors of immunity on growth.
Sign Up to like & getrecommendations! Published in 2019 at "Jornal de pediatria"
DOI: 10.1016/j.jped.2018.11.006
Abstract: OBJECTIVES This study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders,… read more here.
Keywords: growth; immunity growth; growth disorders; errors immunity ... See more keywords
Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals.
Sign Up to like & getrecommendations! Published in 2017 at "Current opinion in microbiology"
DOI: 10.1016/j.mib.2017.10.016
Abstract: It has been estimated that there are at least 1.5 million fungal species, mostly present in the environment, but only a few of these fungi cause human disease. Most fungal diseases are self-healing and benign,… read more here.
Keywords: fungal diseases; healthy individuals; otherwise healthy; errors immunity ... See more keywords
Rheumatological manifestations in inborn errors of immunity
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric Research"
DOI: 10.1038/s41390-019-0600-8
Abstract: Rare monogenetic diseases serve as natural models to dissect the molecular pathophysiology of the complex disease traits. Rheumatologic disorders by their nature are considered complex diseases with partially genetic origin, as illustrated by their heterogeneous genetic background… read more here.
Keywords: manifestations inborn; inborn errors; rheumatological manifestations; errors immunity ... See more keywords
Host-directed immunotherapy to fight infectious diseases
Sign Up to like & getrecommendations! Published in 2022 at "Current Opinion in Pediatrics"
DOI: 10.1097/mop.0000000000001176
Abstract: Purpose of review This review provides readers with examples of refractory infections due to inborn errors of immunity, highlighting how they may be successfully treated by deducing and targeting the underlying immunodeficiency. Recent findings The… read more here.
Keywords: immunotherapy fight; host directed; inborn errors; directed immunotherapy ... See more keywords
Navigating diagnostic options for inborn errors of immunity in children: a case-based illustration
Sign Up to like & getrecommendations! Published in 2022 at "Current Opinion in Pediatrics"
DOI: 10.1097/mop.0000000000001178
Abstract: Purpose of review In recent years, there has been a dramatic increase in the number of recognized inborn errors of immunity (IEI), many of which present in childhood. This review discusses diagnostic approaches for some… read more here.
Keywords: inborn errors; options inborn; diagnostic options; navigating diagnostic ... See more keywords
Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Haematology"
DOI: 10.1111/bjh.18497
Abstract: Patients with inborn errors of immunity (IEI) can suffer from treatment‐refractory inflammatory bowel disease (IBD) causing failure to thrive and consequences of long‐term multiple immunosuppressive treatments. Allogeneic haematopoietic stem cell transplantation (alloHSCT) can serve as… read more here.
Keywords: inborn errors; disease; inflammatory bowel; bowel disease ... See more keywords