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 "erythroderma" symptom

  • child syndrome
  • cutaneous mastocytosis
  • harlequin ichthyosis
  • lamellar ichthyosis
  • omenn syndrome

This symptom has already been validated