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Omen Syndrome: Causes, Symptoms, Diagnosis, Treatment
Last reviewed: 23.04.2024
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Omen syndrome is a disease characterized by early (first weeks of life) beginning in the form of exudative rash, alopecia, hepatosplenomegaly, generalized lymphadenopathy, diarrhea, hypereosinophilia, heperimmunoglobulinemia E and increased susceptibility to infections characteristic of combined immunodeficiencies.
RAG1 / RAG2 are involved in the recombination of immunoglobulin and TCR genes. Complete deficiency of RAG1 / RAG2 leads to the development of T-B-NK-TKIN. In the case of missense mutations in the RAG1 / RAG2 genes, the RAG1 / RAG2 function is partially retained (incomplete RAG1 / RAG2 deficiency), and V (D) J recombination is not completely broken. As a result, there is the occurrence of oligoclonal T lymphocytes that proliferate at the periphery, possibly in response to autoantigens.
[Symptoms of Omen syndrome
The treatment of skin manifestations with steroids has a negligible effect. This syndrome differs from other forms of CIN in the absence of lymphopenia. On the contrary, the number of lymphocytes in many patients is sharply increased. Circulating lymphocytes in patients with Omen syndrome are activated T cells, often carry markers of both activated lymphocytes and memory cells. T lymphocytes mainly secrete Th2 cytokines, which probably explains eosinophilia and increased levels of IgE. The number of circulating B-lymphocytes and serum immunoglobulins A, M, G is sharply reduced. The histological picture is characterized by an abnormal structure of lymphoid organs (absence of lymphoid follicles in lymph nodes, spleen, Peyer's patches and thymus hypoplasia with absence of Hassala bodies); infiltration of lymphoid organs, skin, lungs and liver with cells that have the characteristics of Langerhans cells, but do not contain specific Birbek granules; T-lymphocytes and eosinophils.
In some patients, only a part of the symptoms of Omen syndrome are noted, this condition is commonly called atypical Omen syndrome.
Treatment and prognosis of Omen syndrome
By 2001, 68 patients with Omen syndrome were described, the only method of treatment is bone marrow transplantation. According to published data, TKM was performed in 28 patients, with complete immunological recovery occurred in 15 patients, and post-transplant mortality was 46%. At the stage of preparation of transplantation, a good effect of therapy of cutaneous manifestations of IFN-y and steroids was noted.