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Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program. [PDF]
Graafen L +32 more
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Four doses of coronavirus disease 2019 vaccination for patients with inborn errors of immunity compared to 3 doses for healthy individuals. [PDF]
Chan JCH +19 more
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Medical Clinics of North America, 2023
Inborn errors of immunity occur in 1 in 1000 to 1 in 5000 individuals and are characterized by immune deficiency and immune dysregulation. The primary care provider (PCP) should be familiar with key features of these diagnoses including recurrent and/or severe infections, hyperinflammation, malignancy, and autoimmunity and have a low threshold to refer
Carolyn H, Baloh, Hey, Chong
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Inborn errors of immunity occur in 1 in 1000 to 1 in 5000 individuals and are characterized by immune deficiency and immune dysregulation. The primary care provider (PCP) should be familiar with key features of these diagnoses including recurrent and/or severe infections, hyperinflammation, malignancy, and autoimmunity and have a low threshold to refer
Carolyn H, Baloh, Hey, Chong
openaire +3 more sources
Epigenetic Alterations in Inborn Errors of Immunity [PDF]
The epigenome bridges environmental factors and the genome, fine-tuning the process of gene transcription. Physiological programs, including the development, maturation and maintenance of cellular identity and function, are modulated by intricate epigenetic changes that encompass DNA methylation, chromatin remodeling, histone modifications and RNA ...
Andrea Riccio +2 more
exaly +6 more sources
Inborn errors of STAT1 immunity
Current Opinion in Immunology, 2021Signal transducer and activator of transcription 1 (STAT1) is a latent cytoplasmic transcription factor that is activated by multiple stimuli, including type I, II, and III interferons and interleukin-27. Inborn errors of human STAT1 immunity underlie 4 distinct disorders: autosomal recessive (AR) complete STAT1 deficiency, AR partial STAT1 deficiency,
Yoko, Mizoguchi, Satoshi, Okada
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Future of Therapy for Inborn Errors of Immunity [PDF]
Over the past 20 years, the rapid evolution in the diagnosis and treatment of primary immunodeficiencies (PI) and the recognition of immune dysregulation as a feature in some have prompted the use of "inborn errors of immunity" (IEI) as a more encompassing term used to describe these disorders [1, 2] .
Elena Perez
exaly +3 more sources
Inborn Errors of Immunity and Autoimmune Disease
The Journal of Allergy and Clinical Immunology: In Practice, 2023Autoimmunity may be a manifestation of inborn errors of immunity, specifically as part of the subgroup of primary immunodeficiency known as primary immune regulatory disorders. However, although making a single gene diagnosis can have important implications for prognosis and management, picking patients to screen can be difficult, against a background ...
Paul Edgar Gray, Clementine David
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COVID-19 and Inborn Errors of Immunity
Physiology, 2022Inborn errors of immunity (IEI) are a heterogeneous group of disorders affecting immune host defense and immunoregulation. Considering the predisposition to develop severe and chronic infections, it is crucial to understand the clinical evolution of COVID-19 in IEI patients.
Ottavia Delmonte +2 more
exaly +4 more sources

