Dysfunctional diseases

Articles

• IL12B
  31 August 2004

  The IL12B gene on chromosome 5q31-33 encodes the p40 subunit of interleukin 12, an immunomodulatory cytokine.
  Interleukin-12 has 2 chains, a 35-kD chain encoded by IL12A (MIM.161560) and a 40-kD chain encoded by IL12B.
  Pathology
  germline mutations in
  disseminated infection with BCG and Salmonella enteritidis (MIM.209950) (#9603732#, #9854038#)
  IL12B polymorphisms association with in
  asthma susceptibility (#15322986#)
  psoriasis susceptibility (#17236132#)
  References
  Cargill M, (...)

• LIG4 syndrome
  19 November 2003

  DNA ligase 4 deficiency

• Opitz-Kaveggia syndrome
  5 October 2007

  OKS, FG syndrome

• Kostmann disease
  21 September 2007

  SCN3, severe congenital neutropenia type 3, autosomal recessive severe congenital neutropenia

• central core disease
  28 July 2007

  Ent. 1956
  Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown but the condition is probably more common than other congenital myopathies.
  CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness pronounced in the hip girdle; orthopaedic complications are common and malignant (...)

• neonatal diabetes mellitus
  29 July 2007

  Transient (TNDM) and Permanent (PNDM) Neonatal Diabetes Mellitus are rare conditions occurring in 1:300,000-400,000 live births. TNDM infants develop diabetes in the first few weeks of life but go into remission in a few months, with possible relapse to a permanent diabetes state usually around adolescence or as adults.
  The pancreatic dysfunction in this condition may be maintained throughout life, with relapse initiated at times of metabolic stress such as puberty or pregnancy.
  In PNDM, (...)

• desmin cardiomyopathy
  28 August 2007

  Synopsis
  diffuse myocyte hypertrophy
  nuclear pleomorphism without intramyocardial fibrosis
  myofibers distorted by intracytoplasmic, pale, waxy hyaline inclusions
  conduction fibers grossly swollen and preferentially involved
  trichrome stain pale pink inclusions against a red background
  inclusions PAS negative and not congophilic
  Immunochemistry
  desmin immunohistochemical staining variable dense staining of inclusions in some areas faint to no staining
  Electron microscopy (...)

• Kartagener syndrome
  24 November 2004

  Siewert syndrome

• cone rod dystrophies
  6 October 2003

  inherited retinal dystrophy, cone-rod dystrophy

• X-linked chronic idiopathic intestinal pseudo-obstruction
  30 November 2007

  X-linked chronic intestinal pseudo-obstruction, X-linked CIPO

0 | 10