Rare Diseases Symptoms Automatic Extraction

Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency.

[omenn syndrome]

Severe combined immunodeficiency (SCID) is one of the most severe forms of primary immunodeficiency characterized by absence of functional T lymphocytes. It is a paediatric emergency, which is life-threatening when recognized too late. The clinical presentation varies from the classical form of SCID through atypical SCID to Omenn syndrome. In addition, there is a considerable immunological variation, which can hamper the diagnosis. In this educational review, we describe the immunopathological background, clinical presentations and diagnostic process of SCID, as well as the therapeutic possibilities.

Diseases presenting "severe forms" symptom

  • classical phenylketonuria
  • congenital adrenal hyperplasia
  • congenital toxoplasmosis
  • cystinuria
  • dentin dysplasia
  • dentinogenesis imperfecta
  • dystrophic epidermolysis bullosa
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • junctional epidermolysis bullosa
  • kindler syndrome
  • omenn syndrome
  • primary hyperoxaluria type 1
  • pyomyositis
  • severe combined immunodeficiency

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