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 "mutations of il7ra" symptom

  • omenn syndrome

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