Omenn syndrome

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Omenn Syndrome

Omenn Syndrome (pronounced: /ˈoʊmɛn/), is a rare autosomal recessive disorder characterized by severe immunodeficiency, and is associated with autoimmunity and lymphoproliferation. The syndrome is named after the American pediatrician and geneticist, Gilbert Omenn, who first described the condition in 1965.

Etymology

The term "Omenn Syndrome" is eponymous, named after Gilbert Omenn, who first described the condition. The term "syndrome" is derived from the Greek word "σύνδρομον" (syndromon), meaning "concurrence of symptoms" or "running together".

Symptoms

Omenn Syndrome is characterized by several symptoms including erythroderma, alopecia, lymphadenopathy, hepatosplenomegaly, and failure to thrive. The syndrome also presents with severe immunodeficiency, leading to recurrent and severe infections.

Causes

Omenn Syndrome is caused by mutations in the RAG1 or RAG2 genes, which are involved in the development and function of T cells and B cells, two types of lymphocytes that play a central role in the immune response.

Diagnosis

Diagnosis of Omenn Syndrome is based on clinical features, immunological analysis, and genetic testing. The presence of erythroderma, alopecia, lymphadenopathy, hepatosplenomegaly, and failure to thrive, along with severe immunodeficiency, are indicative of the syndrome.

Treatment

Treatment for Omenn Syndrome typically involves bone marrow transplantation or stem cell transplantation to restore the immune system. Supportive care, including treatment for infections and nutritional support, is also important.

Prognosis

Without treatment, Omenn Syndrome is typically fatal within the first year of life. However, with early diagnosis and treatment, the prognosis can be significantly improved.

See Also

External links

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