Omenn Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A genetically heterogenous autosomal recessive severe combined immunodeficiency syndrome. caused by mutation(s) in the RAG-1, RAG-2, and DCLRE1C genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea.