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Objective: To review the characteristic clinical and laboratory features of inborn errors of immunity (IEI) that are associated with elevated immunoglobulin (Ig)E levels.
Data Sources: Primary peer-reviewed literature.
Study Selections: Original research articles reviewed include interventional studies, retrospective studies, case-control studies, cohort studies, and review articles related to the subject matter.
Results: An extensive literature review was completed to allow for comprehensive evaluation of several monogenic IEI. This review includes a description of the classic clinical features, common infections, characteristic laboratory findings, specific diagnostic methods (when applicable), and genetic basis of disease of each syndrome. A comprehensive flow diagram was created to assist them in the diagnosis and evaluation of patients with elevated IgE levels who may require evaluation for an IEI.
Conclusion: IEI should be considered in patients with elevated IgE levels, especially if they have recurrent infections, eczematous dermatitis, malignancy, lymphoproliferation, autoimmunity, or connective tissue abnormalities.
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http://dx.doi.org/10.1016/j.anai.2022.07.013 | DOI Listing |
Acta Med Acad
December 2024
University of Rijeka, Faculty of Medicine, Rijeka, Croatia.
This paper presents a comprehensive and updated overview of inborn errors of immunity (IEIs), focusing on the optimal treatment strategies. IEIs or primary immunodeficiencies (PIDs) are a heterogeneous group of approximately 500 disorders, classified into ten categories according to the affected component of the immune system. The clinical presentation varies, based on the type of the disorder and the patient's age.
View Article and Find Full Text PDFGynecol Endocrinol
December 2024
Department of Gynecological Endocrinology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.
Objective: To present a young girl with pyruvate kinase deficiency (PKD) and concurrent severe hemolytic anemia who underwent fertility preservation and cryopreservation. Clinical symptoms, diagnosis, treatment, and new strategies for fertility protection and preservation in PKD patients who require allogeneic hematopoietic stem cell therapy are explored.
Case Presentation: Six-year-old girl with persistent unconjugated hyperbilirubinemia and severe hemolytic anemia since birth, continuous elevation of bilirubin levels and severe splenomegaly.
Adv Biomed Res
November 2024
Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Background: The relationship between inborn errors of immunity (IEIs) and COVID-19 severity and incidence rates remains unclear due to limited and diverse data. This study aimed to address this gap by identifying specific IEIs associated with an increased risk of severe COVID-19 or a predisposition to severe disease before vaccination.
Materials And Methods: Data were collected from the medical records of 15 patients with various IEIs, supplemented by interviews with individuals from an IEIs registry who had experienced COVID-19 before vaccination.
Ann Allergy Asthma Immunol
December 2024
Division of Pediatric Pulmonology, Allergy and Immunology, Department of Pediatrics, Medical University of South Carolina, South Carolina, USA. Electronic address:
Inborn Errors of Immunity are a rapidly expanding group of monogenetic disorders affecting the immune system. Advancements in genetic testing and functional validation studies have accelerated the pace of IEI gene discovery and mechanism of disease, particularly in the past five years. To keep up with this rapid expansion, the International Union of Immunological Societies (IUIS) Expert Committee has periodically, since 1999, released updated IEI classifications with corresponding genotypic and phenotypic catalogues with its most recent update in 2022.
View Article and Find Full Text PDFJ Clin Immunol
December 2024
Pediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, University of Bologna, Bologna, Italy.
Background: Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity).
Methods: Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers.
Results: Patients were genetically confirmed with APDS-1 (n = 20) or APDS-2 (n = 8), with pathogenic mutations in the PIK3CD or PIK3R1 genes.
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