Monogenic disease

Articles

• mannose-binding protein deficiency
  29 March 2006

  Etiology
  germline mutations of MBL2 in mannose-binding protein deficiency (MIM.154545)

• hereditary angioedema type 3
  11 December 2007

  HAE III

• CD3Z-associated primary T-cell immunodeficiency
  16 March 2007

  CD3zeta-associated primary T-cell immunodeficiency

• hyper-IgD syndrome
  5 February 2008

  HIDS

• RS-SCID
  8 February 2006

  severe combined immunodeficiency with sensitivity to ionizing radiation (RS-SCID), Athabaskan-type SCID (SCIDA)

• Frasier syndrome
  8 April 2004

  Frasier disease

• Wolcott-Rallison syndrome
  5 December 2005

  Wolcott-Rallison syndrome is a rare autosomal recessive condition first described in 1972. It is characterised by diabetes mellitus which arises in early infancy and multiple epiphyseal dysplasia. Wolcott-Rallison syndrome is caused by mutation in the EIF2AK3 gene (MIM.604032), which encodes translation initiation factor 2-alpha kinase-3.
  Synopsis
  hepatic failure
  abnormal pancreatic histology
  anomalies of the central nervous system
  anomalies of the cardio-respiratory system (...)

• Faisalabad histiocytosis
  18 March 2006

  Definition: Faisalabad histiocytosis is a form of histiocytosis associated with sensorineural deafness and joint contractures.
  Faisalabad histiocytosis (MIM.602782) was first described as a novel autosomal recessive form of histiocytosis in a highly consanguineous family originating from Pakistan.
  Affected individuals were born with joint deformities, sensorineural hearing loss and subsequently developed a generalized lymphadenopathy and swellings in their eyelids that were shown to (...)

• Blackfan-Diamond anemia
  26 November 2003

  congenital hypoblastic anemia of Blackfan-Diamond, congenital chronic aregenerative anemia

• hemophagocytic lymphohistiocytosis
  22 February 2005

  FHLs, HPLH, HLH, familial erythrophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytosis, familial hemophagocytic lymphohistiocytoses
  Definition: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, fatal disorder of early infancy.
  Images
  hepatic erythrophagocytosis in hemophagocytic lymphohistiocytosis
  https://twitter.com/GIPathologyURMC/status/889533077118214144
  See also
  erythrophagocytosis
  hepatic erythrophagocytosis
  Hemophagocytic (...)

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