Asian network for molecular diagnosis of primary immunodeficiencies

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Asian network for molecular diagnosis of primary immunodeficiencies

Primary immunodeficiency disorders (PIDs) are inborn errors of the immune system. There are over 150 types of PIDs and because of their rarity, multi-center collaboration for pooled data analysis and molecular studies is important to gain meaningful insights about the phenotypic and genetic diversities of PIDs. Since 2001, our unit established collaboration with 30 pediatric centers in China an...

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the italian network of primary immunodeficiencies

primary immunodeficiencies are rare diseases, characterized by an increased susceptibility to infections. early diagnosis and appropriate treatment are critical for reducing morbidity and mortality. given the rarity of these diseases, the awareness of these disorders by physicians is often insufficient, leading to delayed diagnosis and inappropriate treatment which are the major causes of sever...

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Primary Immunodeficiencies (PID): driving diagnosis for optimal care in Europe

Primary Immunodeficiencies (PID) are defects of the immune system that cause increased susceptibility to infections that are chronic, persistent, recurring, debilitating, and often fatal. There are more than 150 PID diseases, which affect more than 10 million people worldwide. PID are often manageable, if properly evaluated and treated. However, awareness of these diseases is low amongst both p...

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Primary immunodeficiencies

Primary immunodeficiencies (PID) are inherited disorders of immune system function [1,2] characterised by absent or low response to infectious agents and a high prevalence of autoimmune manifestations and lymphoproliferative diseases. More than 120 PID in which a molecular defect causes the disease have been identified. The IUIS/WHO Experts Committee published a classification of all PID known ...

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Gene Therapy for Primary Immunodeficiencies

Primary immunodeficiencies (PID) are caused by mutations in genes involved in the normal development or activity of the immune system [1, 2]. PIDs include Band T-cell defects, phagocytic disorders, and complement deficiencies with the common feature of frequent lifethreatening infections. The phenotypes vary from asymptomatic (IgA deficiency) to severe PIDs (such as Severe combined immunodefici...

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ژورنال

عنوان ژورنال: BMC Proceedings

سال: 2011

ISSN: 1753-6561

DOI: 10.1186/1753-6561-5-s1-o4