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Revista Colombia Médica
Universidad del Valle - Facultad de Salud
ISSN: 0120-8322 EISSN: 0120-8322
Vol. 49, No. 3, 2018, pp. 236-243
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Bioline Code: rc18065
Full paper language: English
Document type: Research Article
Document available free of charge
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Revista Colombia Médica, Vol. 49, No. 3, 2018, pp. 236-243
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LRBA in the endomembrane system
Martínez Jaramillo, Catalina & Trujillo-Vargas, Claudia M.
Abstract
Bi-allelic mutations in LRBA (from Lipopolysaccharide-responsive
and beige-like anchor protein) result in a primary immunodeficiency
with clinical features ranging from hypogammaglobulinemia and
lymphoproliferative syndrome to inflammatory bowel disease and
heterogeneous autoimmune manifestations. LRBA deficiency has been
shown to affect vesicular trafficking, autophagy and apoptosis, which
may lead to alterations of several molecules and processes that play key
roles for immunity.
In this review, we will discuss the relationship of LRBA with the
endovesicular system in the context of receptor trafficking, autophagy
and apoptosis. Since these mechanisms of homeostasis are inherent to all
living cells and not only limited to the immune system and also, because
they are involved in physiological as well as pathological processes such
as embryogenesis or tumoral transformation, we envisage advancing
in the identification of potential pharmacological agents to manipulate
these processes.
Keywords
Primary immunodeficiencies; LRBA deficiency; vesicle trafficking; autophagy; apoptosis
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© Copyright 2018 - Universidad del Valle Alternative site location: http://colombiamedica.univalle.edu.co
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