Deciphering the Mechanism of Immune Dysfunction in Vici Syndrome

Idioma: inglés

Editorial: GRIN Publishing Jun 2015, 2015

3656945969 / 9783656945963

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Librería: BuchWeltWeit Ludwig Meier e.K., Bergisch Gladbach, AlemaniaBuchWeltWeit Ludwig Meier e.K.

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This item is printed on demand - it takes 3-4 days longer - Neuware -Doctoral Thesis / Dissertation from the year 2015 in the subject Medicine - Human Genetics, grade: 1, University of Rome 'La Sapienza' (University of Rome 'La Sapienza'), course: Clinical Immunology, language: English, abstract: Vici syndrome is a complex multisystem disorder characterized by congenital malformations of the brain, cataracts, skin hypopigmentation, progressive damage of cardiac function and muscle, immune deficiency. Affected children do not respond to vaccination, have low levels of antibodies in the blood and suffering from severe and frequent infections. The disease is caused by a mutation of the gene EPG5, which encodes a protein essential for the trafficking and function of intracellular vesicles.Cells use vesicles to eliminate uwanted material and remove dead cells. The unwanted material is incorporated into a vesicle and then merged with lysosomes containing proteins that digest the contents to be eliminated (autophagy).This system is essential already during the embryonic stage and then for life. Therefore, its failure causes a disease involving various organs and systems. Since infections are frequent in patients with Vici Syndrome, we think that EPG5 plays a role in the immune system:In this project i propose to assess whether EPG5 is necessary for cells to capture and degrade microorganisms and foreign particles, a necessary step to start the immune reaction. To do this i use cells from patients and healthy controls with fluorescent molecules to study the formation and trafficking of vesicles and evaluate the activation of immune cells by measuring the levels of antibodies and cytokines.Other metabolic diseases and multisystem syndromes, often also associated with immunodeficiency, are in fact caused by genes involved in trafficking, merge or release of vesicles in the cell. My study is a prototype, intended to clarify the underlying mechanisms of a defect in a specific immune complex disease. The results will be used to develop therapies appropriate to fight at least in part the symptoms and risks in patients with multisystem genetic disease. 100 pp. Englisch.…

N° de ref. del artículo 9783656945963

Título
Deciphering the Mechanism of Immune Dysfunction in Vici Syndrome
Autor
Evangelos Axiotis
Editorial
GRIN Publishing Jun 2015
Año de publicación
2015
Estado
Neu
Encuadernación
Taschenbuch
Idioma
inglés
ISBN 10
3656945969
ISBN 13
9783656945963
Peso del artículo
157 gramos
Dimensiones
210x148x8 mm

BuchWeltWeit Ludwig Meier e.K.

Bergisch Gladbach, Alemania

Vendedor de 5 estrellas

Vendedor de IberLibro desde 11 de enero de 2012

Tarifas de envío de Alemania a Estados Unidos de America

ArtículoDe 5 a 15 días hábilesDe 5 a 15 días hábiles
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BuchWeltWeit Ludwig Meier e.K.

Alemania