Omenn syndrome

Omenn syndrome is an autosomal recessive severe combined immunodeficiency associated with mutations in the recombination activating genes (RAG1 and RAG2), affecting circulating levels of both B-cells and T-cells.

Symptoms
The symptoms are very similar to graft-versus-host disease (GVHD). This is because the patients have some T cells with limited levels of recombination with the poor RAG genes. These T cells are abnormal and have a very specific affinity for self antigens found in the thymus and in the periphery. Therefore, these T cells are auto-reactive and cause the GVHD phenotype.

Symptoms include:


 * Desquamation (shedding the outer layers of skin)
 * Chronic diarrhea
 * Erythroderma (widespread reddening of the skin)
 * Hepatosplenomegaly (simultaneous enlargement of both the liver and the spleen)
 * Leukocytosis (elevation of the white blood cell count)
 * Lymphadenopathy (swelling of one or more lymph nodes)
 * Persistent bacterial infections
 * Elevated serum IgE

Treatment
Omenn syndrome is sometimes treated with bone marrow transplantation and cord blood stem cells.