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The genetic understanding of primary immunodeficiency diseases (PIDs) has rapidly advanced over the past 10 years; the number of known genetic causes now approaches 200. Most are very rare disorders that have increased our understanding of the crucial cellular pathways required for protection against infection by a wide variety of microbes. Although genetic disorders causing auto-inflammatory disease...
The field of primary immunodeficiency diseases (PID) has grown dramatically over the past 10 years, the number of defined genetic causes almost doubling to a current total of about 130 different defects. These often are very rare disorders which have taught us much about the crucial cellular pathways required for protection against infection from a wide variety of microbes. Although most clinicians...
Primary immunodeficiency diseases result from genetic defects in the development and maturation of cells of the immune system. They lead to an increased susceptibility to infections, which are usually characteristic of the specific immune defect. They are classified into combined cellular and antibody deficiencies, predominant antibody deficiencies, phagocytic deficiencies, complement deficiencies...
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