Results 11 to 20 of about 22,161 (138)
Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity [PDF]
Seminars in Immunology, 2014 Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria, in otherwise healthy individuals with no overt abnormalities in routine hematological and immunological tests. MSMD designation does
Jacinta, Bustamante +3 more
openaire +2 more sources
Antibodies, 2023 Elevated immunoglobulin E (IgE) is a hallmark of allergic diseases. However, high IgE levels also occur in a number of other infectious and noninfectious diseases.
Polina Kostova +7 more
doaj +1 more source
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report
Frontiers in Genetics, 2020 RationaleMucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).
Caio Perez Gomes +7 more
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Anais Brasileiros de Dermatologia, 2015 Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome.
Juliano Peruzzo +4 more
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A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders
Frontiers in Neurology, 2020 Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid-akinetic syndrome) movement disorders. The diagnosis of these diseases is in
Juan Darío Ortigoza-Escobar
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A journey through the history of Neurogenetics
Arquivos de Neuro-Psiquiatria, 2021 Since the late 19th century, when several inherited neurological disorders were described, the close relationship between Neurology and heredity were well documented by several authors in a pre-genetic era.
Thiago Yoshinaga Tonholo SILVA +3 more
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Vohwinkel syndrome: ichthyosiform variant in a family [PDF]
Anais Brasileiros de Dermatologia, 2018 : Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient ...
Clarissa Prieto Herman Reinehr +2 more
doaj +1 more source
Frontiers in Immunology, 2022 Autoimmune diseases are usually associated with environmental triggers and genetic predisposition. However, a few number of autoimmune diseases has a monogenic cause, mostly in children.
Manuela Cortesi +7 more
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Human inborn errors of immunity: diagnosis and management [PDF]
Exploration of ImmunologyPrimary immunodeficiency disease (PID) now known as inborn errors of immunity (IEI) is genetic disorder(s) that impair the immune system. IEI is a heterogeneous group of diseases of more than 485 lifelong genetic disorders mainly due to intrinsic defect ...
Iftekhar Mahmood
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Advances in quantitative MRI of hereditary myopathies
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 MRI can non⁃invasively show the muscles pathological change and damage pattern. It has taken an important role in myopathies diagnosis and research. The emergence of quantitative MRI (qMRI) technology and the advancement of post⁃processing methods can ...
LIANG Ying⁃yin +4 more
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