Disease group (mechanisms)

Articles

• lipid absorption diseases
  24 October 2005

  lipid absorption disorders

• X-linked immune diseases
  10 November 2005

  X-linked immune syndromes

• intracellular movement diseases
  9 January 2006

  intracellular movement disorders

• DNA repair diseases
  20 June 2005

  DNA repair disorders

• inherited ossifying diseases
  30 September 2009

  Inherited ossifying disease
  Inherited ossifying diseases are relatively uncommon diseases leading ta a great disability and life-threatening complications.
  The fibrodysplasia ossificans progressiva is characterized by the association of skeletal abnormalities mainly in great toes, and enchondral ossifications in tendons and muscles. BMP dysregulation seems to be the main underlying mechanism of the heterotopic ossifications. The genetic basis remain controversial between a mutation on (...)

• inflammatory barrier diseases
  18 January 2006

  Chronic inflammatory diseases such as Crohn disease, atopic eczema, asthma and psoriasis are triggered by hitherto unknown environmental factors that function on the background of some polygenic susceptibility.
  See also
  intestinal barrier
  References
  Schreiber S, Rosenstiel P, Albrecht M, Hampe J, Krawczak M. Genetics of Crohn disease, an archetypal inflammatory barrier disease. Nat Rev Genet. 2005 May;6(5):376-88. PMID: (...)

• inherited bleeding disorders
  14 June 2005

  disorders of platelet adhesion and aggregation

• hyper-IgE recurrent infection syndromes
  30 June 2011

  HIES, hyper-IgE recurrent infection syndrome

• cryopyrinopathies
  13 October 2009

  Cryopyrinopathies are three disorders, which overlap in their clinical expression, arise from gain-of-function mutations of the gene encoding cryopyrin, an essential component of the inflammasome.
  As a result of these mutations, hyperactivation of the inflammasome results in increased caspase-1 generation leading to hypersecretion of IL-1 Another proinflammatory event, activation of IL-6, is mediated via NF-β. The phenotypic differences among the three cryopyrinopathies are related to (...)

• systemic histiocytoses
  6 February 2004

  Types
  Langerhans histiocytosis
  non-Langerhans histiocytoses Erdheim-Chester disease systemic juvenile xanthogranuloma generalized eruptive histiocytoma multicentric reticulohistiocytosis (#14639398#, #2192569#) xanthoma disseminatum
  References
  Weitzman S, Jaffe R. Uncommon histiocytic disorders: the non-Langerhans cell histiocytoses. Pediatr Blood Cancer. 2005 Sep;45(3):256-64. PMID: #15547923#
  Jaffe R. The other histiocytosis. Pediatr Dev Pathol. 2004 Jan-Feb;7(1):2-4. PMID: (...)

0 | 10 | 20 | 30