Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations
International Journal of Neonatal Screening, 2023 Inborn errors of immunity (IEI) are a group of over 450 genetically distinct conditions associated with significant morbidity and mortality, for which early diagnosis and treatment improve outcomes. Newborn screening for severe combined immunodeficiency (
Jovanka R. King +2 more
semanticscholar +1 more source
Hereditary myopathy with early respiratory failure in China: one case report and literatures review
Chinese Journal of Contemporary Neurology and Neurosurgery, 2023 Objective To retrospectively analyze the clinical sign and symptom, pathological and genetic characteristics of a case of hereditary myopathy with early respiratory failure (HMERF).
LI Ying +5 more
doaj +1 more source
Genetic tests used in modern diagnosis of inborn errors of immunity and hematological diseases
Central European Journal of ImmunologyHigh-throughput genetic testing plays a key role in the diagnosis of genetically determined diseases. Its application has significantly increased the diagnostic efficiency of many rare diseases, including inborn errors of immunity (IEI) and hematological diseases.
Marta Mazalon +8 more
openaire +1 more source
Genetic and epigenetic dysregulation of innate immune mechanisms in autoinflammatory diseases
The FEBS JournalDysregulation and hyperactivation of innate immune responses can lead to the onset of systemic autoinflammatory diseases. Monogenic autoinflammatory diseases are caused by inborn genetic errors and based on molecular mechanisms at play, can be divided ...
Laura M. Merlo Pich +2 more
semanticscholar +1 more source
Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]
, 2008 Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Jushua Michel +8 more
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Modeling Inborn Errors of Hepatic Metabolism Using Induced Pluripotent Stem Cells
, 2017 Inborn errors of hepatic metabolism are because of deficiencies commonly within a single enzyme as a consequence of heritable mutations in the genome. Individually such diseases are rare, but collectively they are common.
Behshad Pournasr, Stephen A. Duncan
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Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature
, 2023 Preimplantation genetic testing (PGT) has emerged as a revolutionary technique in the field of reproductive medicine, allowing for the selection and transfer of healthy embryos, thus reducing the risk of transmitting genetic diseases.
Ugo Sorrentino +4 more
core +1 more source
Going viral − Virus‐targeting nanobodies for research, diagnostics and therapy
FEBS Letters, EarlyView.The increasing prevalence of viral diseases represents a major threat for global human health. Nanobodies, small binding fragments derived from camelid heavy‐chain antibodies, offer versatile tools for viral research, diagnostics, and antiviral therapy.
Domenic Ebert, Ulrich Rothbauer
wiley +1 more source
Cell surface CD11c as a neutrophil aging marker molecule
FEBS Open Bio, EarlyView.Cell surface CD11chi neutrophils were more aged and had better phagocytic function than CD11c−/lo neutrophils. Transcriptomic analysis of CD11chi neutrophils and CD11c−/lo neutrophils in pediatric population showed that the most difference was seen in infants.
Sophia Koutsogiannaki +5 more
wiley +1 more source
Focus on the treatment of hereditary muscular diseases
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 DOI: 10.3969/j.issn.1672-6731.2019.05 ...
Cheng ZHANG
doaj