INHERITED MONOGENIC IMMUNE DISORDERS
(see also diseases of the immune system and diseases with intrinsic aetiology)
 
  • congenital immunodeficiencies (usually age of appearance directly relates with severity of prognosis)
  • Web resources :
  • autoimmune polyendocrine syndromes (APS) / polyglandular autoimmune (PGA) syndromes : onset during childhood.
  • autoimmune lymphoproliferative syndrome (ALPS) / human lymphoproliferative syndrome (HLPS)
  • systemic autoinflammatory diseases
  • hereditary periodic fever syndromes / hereditary autoinflammatory disorders are a group of systemic disorders characterized by recurrent attacks of systemic inflammation (autoinflammation) without infectious or autoimmune cause, resulting from a defect of the innate immune responseref (Kastner DL, Aksentijevich I. Intermittent and periodic arthritis syndromes. In: Koopman WJ, Moreland LW, eds. Arthritis and Allied Conditions (15th ed). Philadelphia: Lippincott Williams and Wilkins; 2005:1411–1461), initially described as affecting primarily the serosal and synovial surfaces and the skin, but now recognized to include a somewhat broader distribution of affected tissues. The hereditary periodic fevers differ from autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis in that they lack high-titer autoantibodies or antigen-specific T-cells; they are termed autoinflammatory diseases to highlight this distinction
  • immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX)

  • Aetiology : mutations in FOXP3 gene, a transcription factor essential for TReg cell differentiation
    Animal models : mouse counterpart, the Scurfy mutant
  • familial haemophagocytic lymphohistiocytosis (FHL) 1

  • Aetiology : mutations in the perforingene
    Pathogenesis : patients have defective NK cells and perivascular lymphocytic infiltration

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