Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 7 of 7 for “"Primary immunodeficiencies"”.
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The Genetic, Molecular, And Cellular Bases Of Unidentified Primary Immunodeficiencies
… true human disease and in vivo human biology. Primary immunodeficiencies are inborn genetic defects of immunity and present rare opportunities to observe, study, and understand how genetic perturbations impact human immunity directly. I therefore clinically and genetically analyzed three …
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From Phenotype to Genotype: Discovery of New Molecular Primary Immunodeficiencies
… 1950s, the investigation of genetic causes of primary immunodeficiencies has fundamentally shaped our understanding of the immune system, and that fountain of knowledge has continued to expand explosively as we enter the genomic era with the dawn of CRISPR and personalized medicine. In this …
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Immunological evaluation of HIV-negative invasive fungal disease at Groote Schuur Hospital, Cape Town, South Africa
… immune work-up can lead to a diagnosis of primary immunodeficiency. Objective To detail an appropriate step-wise immunological work-up for a series of patients with invasive fungal diseases and possible underlying primary immune deficiency. Methods Detailed review of all culture- or …
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MUTATION OF REGNASE-1 CAUSES PRIMARY IMMUNODEFICIENCY ASSOCIATED WITH AUTO-INFLAMMATORY DISEASE
Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders causing immune dysfunction that manifest with increased susceptibility to infection. Some PID patients may also have autoimmune and autoinflammatory manifestations. In many cases, PIDs are monogenic disorders that follow …
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Monogenic Defects of the Type I Interferons Signaling Pathway in Humans: Molecular and Clinical Implications
… which indicates that susceptibility to severe primary infections, even from common pathogens such as influenza virus, is genetically determined. IRF9 is a critical regulator of innate anti-viral immunity in the type I and III interferon (IFN) signaling pathways, which share many signaling …
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Genomic investigation of primary immunodeficiency
Primary immunodeficiencies (PIDs) are a collection of rare diseases which effect one or more components of the human immune system and are typically considered monogenic. PID presents with features including increased susceptibility to infection, autoimmunity, autoinflammation, atopy and …
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Caracterización de pacientes entre 0 y 17 años con diagnóstico de inmunodeficiencias primarias atendidos en la Fundación Cardio-Infantil Instituto de Cardiología
Introducción: Las inmunodeficiencias primarías son un grupo heterogéneo de patologías que generan una disfunción del sistema inmune y al no ser diagnosticadas tempranamente generan una alta morbi-mortalidad, por lo tanto, deben identificarse de manera temprana. En Colombia, existen poca información …