Central Tolerance - Genetic Diseases Caused By Defects in Central Tolerance

Genetic Diseases Caused By Defects in Central Tolerance

Genetic defects in central tolerance can lead to autoimmunity.

  • Autoimmune Polyendocrinopathy Syndrome Type I is caused by mutations in the human gene AIRE. This leads to a lack of expression of peripheral antigens in the thymus, and hence a lack of negative selection towards key peripheral proteins such as insulin. Multiple autoimmune symptoms result.

Read more about this topic:  Central Tolerance

Famous quotes containing the words genetic, diseases, caused, defects, central and/or tolerance:

    “Man is not merely the sum of his masks. Behind the shifting face of personality is a hard nugget of self, a genetic gift.... The self is malleable but elastic, snapping back to its original shape like a rubber band. Mental illness is no myth, as some have claimed. It is a disturbance in our sense of possession of a stable inner self that survives its personae.”
    —Camille Paglia (b. 1947)

    “A fiction about soft or easy deaths ... is part of the mythology of most diseases that are not considered shameful or demeaning.”
    —Susan Sontag (b. 1933)

    “Work-family conflicts—the trade-offs of your money or your life, your job or your child—would not be forced upon women with such sanguine disregard if men experienced the same career stalls caused by the-buck-stops-here responsibility for children.”
    —Letty Cottin Pogrebin (20th century)

    “The defects and faults of the mind are like wounds in the body; after all imaginable care has been taken to heal them up, still there will be a scar left behind, and they are in continual danger of breaking the skin and bursting out again.”
    —François, Duc De La Rochefoucauld (1613–1680)

    “When life has been well spent, age is a loss of what it can well spare,—muscular strength, organic instincts, gross bulk, and works that belong to these. But the central wisdom, which was old in infancy, is young in fourscore years, and dropping off obstructions, leaves in happy subjects the mind purified and wise.”
    —Ralph Waldo Emerson (1803–1882)

    “... the structure of our public morality crashed to earth. Above its grave a tombstone read, “Be tolerant—even of evil.” Logically the next step would be to say to our commonwealth’s criminals, “I disagree that it’s all right to rob and murder, but naturally I respect your opinion.” Tolerance is only complacence when it makes no distinction between right and wrong.”
    —Sarah Patton Boyle, U.S. civil rights activist and author. The Desegregated Heart, part 2, ch. 2 (1962)