Monogenic diseases of the immune system, also known as inborn errors of immunity, are caused by single-gene mutations resulting in immune deficiency and dysregulation. More than 350 diseases have been described to date, and the number is rapidly expanding, with increasing availability of next-generation sequencing facilitating the diagnosis. The spectrum of immune dysregulation is wide, encompassing deficiencies in humoral, cellular, innate, and adaptive immunity; phagocytosis; and the complement system, which lead to autoinflammation and autoimmunity. (Source: Journal of Allergy and Clinical Immunology)
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Τετάρτη 5 Δεκεμβρίου 2018
Tregopathies: Monogenic diseases resulting in regulatory T-cell deficiency
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