Rare Diseases Symptoms Automatic Extraction

Omenn syndrome in an infant with IL7RA gene mutation.

[omenn syndrome]

Omenn syndrome (OS) is a rare combined immunodeficiency characterized by erythroderma, lymphadenopathy, and autoimmune manifestations. Most cases are due to mutations in the RAG genes. We report a case of OS due to mutations of IL7RA, thus defining Omenn syndrome as a genetically heterogeneous condition.

Diseases presenting "combined immunodeficiency" symptom

  • 22q11.2 deletion syndrome
  • hirschsprung disease
  • omenn syndrome
  • severe combined immunodeficiency
  • wiskott-aldrich syndrome

This symptom has already been validated