Omenn

Omenn is a surname that appears in medical literature primarily in connection with Omenn syndrome, a rare form of severe combined immunodeficiency described in the 1960s by a physician named Omenn and colleagues.

Omenn syndrome presents in infancy with generalized erythroderma, lymphadenopathy, hepatosplenomegaly, and failure to thrive. Immunologically, affected individuals have oligoclonal T cells with immune activation, hypogammaglobulinemia, very low or absent B cells, eosinophilia, and elevated IgE. The condition results from partial defects in genes responsible for V(D)J recombination, most commonly hypomorphic mutations in RAG1 or RAG2, producing limited T cell development and autoimmunity.

Diagnosis is based on clinical features, immunophenotyping, and genetic testing. Management focuses on preventing infections and controlling inflammation, with hematopoietic stem cell transplantation offering a potential curative option, ideally early in life. Prognosis varies and depends on factors such as timing of diagnosis and access to transplantation.

Beyond the syndrome, Omenn is a surname borne by other individuals in science and medicine, though Omenn syndrome is the best-known eponym associated with the name.