Disease group (mechanisms)

Articles

• DNA repair diseases
  20 June 2005

  DNA repair disorders

• EBV-associated lymphoproliferative diseases
  22 August 2004

  EBV-associated LPDs

• 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: (...)

• iron overload disorders
  7 May 2004

  See also
  iron-linked diseases
  References
  De Domenico I, McVey Ward D, Kaplan J. Regulation of iron acquisition and storage: consequences for iron-linked disorders. Nat Rev Mol Cell Biol. 2008 Jan;9(1):72-81. PMID: #17987043#
  Bottomley SS. Secondary iron overload disorders. Semin Hematol. 1998 Jan;35(1):77-86. PMID: #9460811#

• mastocytosis
  16 May 2006

  mastocytoses
  2016 WHO classification
  cutaneous mastocytosis / CM
  maculopapular cutaneous mastocytosis / MPCM = urticaria pigmentosa / UP
  diffuse cutaneous mastocytosis / DCM
  mastocytoma of the skin / cutaneous mastocytoma
  systemic mastocytosis / SM
  indolent systemic mastocytosis
  smoldering systemic mastocytosis
  SM with associated hematologic neoplasm / SM-AHN / SH-AHNMD
  aggressive systemic mastocytosis
  mast cell leukemia / MCL
  mast cell sarcoma / MCS
  Types (...)

• hepatorenal dysplasia
  7 December 2004

  renohepatic dysplasias

• citrullinemia
  25 September 2008

  classic citrullinemia, argininosuccinate deficiency, citrullinuria

• 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: (...)

• 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 (...)

• autosomal dominant primary immunodeficiencies
  5 February 2008

  ADPID

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