Immune deficiency in Ataxia-Telangiectasia: a longitudinal study …
网页2014年4月9日 · Ataxia-Telangiectasia (A-T) is an autosomal recessive condition characterized by progressive cerebellar ataxia, oculomotor dyspraxia, dysarthria oculocutaneous telangiectasia and immune deficiency. Chromosomal instability and increased sensitivity to ionizing radiation is a hallmark of classical A-T, leading to increased susceptibility to ...
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia …
网页Patients with ataxia-telangiectasia (A-T) suffer from progressive cerebellar ataxia, immunodeficiency, respiratory failure, and cancer susceptibility. From a clinical point of view, A-T patients with IgA deficiency show more symptoms and may have a poorer prognosis. In this study, we analyzed mortal …
Ataxia-telangiectasia: Immunodeficiency and survival
网页2017年5月1日 · An estimated 10% of AT patients have decreased IgA and IgG levels with normal to increased IgM levels [10], designated as ‘hyper IgM phenotype with hypogammaglobulinemia’ (AT-HIGM). AT is incurable and patients have a reduced life expectancy due to cancer, pulmonary disease, and infections [11].
Ataxia-Telangiectasia - GeneReviews® - NCBI Bookshelf
网页1999年3月19日 · The most common deficiencies in humoral immunity are low levels of immunoglobulins, particularly selective IgA deficiency, hypogammaglobulinemia, and IgG subclass deficiency (most commonly involving IgG2 …
Ataxia Telangiectasia Arising as Immunodeficiency: The …
网页2023年9月19日 · Ataxia telangiectasia (AT) is a multisystemic autosomal recessive inherited disease associated with defective DNA repair mechanisms and clinically characterized by cerebellar ataxia, oculo-cutaneous telangiectasias, immunodeficiency, radiosensitivity, and high cancer susceptibility.
Ataxia-telangiectasia: Immunodeficiency and survival - PubMed
网页Ataxia-telangiectasia (AT) is a neurodegenerative disorder characterized by ataxia, telangiectasia, and immunodeficiency. An increased risk of malignancies and respiratory diseases dramatically reduce life expectancy.
Causative mechanisms and clinical impact of immunoglobulin …
网页Background: Ataxia telangiectasia (AT) is characterized by cerebellar ataxia, telangiectasia, immunodeficiency, and increased cancer susceptibility and is caused by mutations in the ataxia telangiectasia mutated (ATM) gene. The immunodeficiency comprises predominantly immunoglobulin deficiency, mainly IgA and IgG 2, …
Immune deficiency in Ataxia-Telangiectasia: a longitudinal study …
网页2014年4月9日 · The immune defects associated with A-T include low total immunoglobulin levels (IgG/IgA or IgM), low IgG2, defective polysaccharide antibody responses and lymphopenia. Lymphopenia affects CD4 + cells, although T cell function is preserved, and B cell numbers are commonly reduced [ 6, 9–14 ].
Ataxia-Telangiectasia - Ataxia-Telangiectasia - MSD Manuals
网页Key Points. Ataxia-telangiectasia results from a DNA repair defect that frequently results in humoral and cellular immunodeficiency; it causes progressive cerebellar ataxia, oculocutaneous telangiectasias, and recurrent sinopulmonary infections. IgA and serum alpha-1 fetoprotein levels are measured.
Ataxia-telangiectasia (A-T) | Immune Deficiency Foundation
网页Ataxia-telangiectasia (A-T) is an autosomal recessive disorder that causes neurological symptoms (like unsteady gait), dilated corkscrew-shaped blood vessels in the white of the eyes and on sun-exposed skin, combined immune deficiency, and high risk of cancer.
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