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 "immunodeficiency" symptom

  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • cushing syndrome
  • dracunculiasis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • legionellosis
  • malignant atrophic papulosis
  • oculocutaneous albinism
  • omenn syndrome
  • papillon-lefèvre syndrome
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • pyomyositis
  • severe combined immunodeficiency
  • sneddon syndrome
  • werner syndrome
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

This symptom has already been validated