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 "lymphadenopathy" symptom

  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • carcinoma of the gallbladder
  • congenital toxoplasmosis
  • erdheim-chester disease
  • focal myositis
  • hodgkin lymphoma, classical
  • liposarcoma
  • lymphangioleiomyomatosis
  • oculocutaneous albinism
  • omenn syndrome
  • primary effusion lymphoma
  • scrub typhus
  • severe combined immunodeficiency
  • typhoid
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome

This symptom has already been validated