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Omen syndrome: causes, symptoms, diagnosis, treatment
Last reviewed: 07.07.2025
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Omen syndrome is a disease characterized by an early (first weeks of life) onset of exudative rash, alopecia, hepatosplenomegaly, generalized lymphadenopathy, diarrhea, hypereosinophilia, hyperimmunoglobulinemia E, and an 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 results in the development of T-B-NK-SCID. In missense mutations of the RAG1/RAG2 genes, the RAG1/RAG2 function is partially preserved (incomplete deficiency of RAG1/RAG2), and, accordingly, V(D)J recombination is not completely impaired. As a result, oligoclonal T lymphocytes appear, which proliferate in the periphery, possibly in response to autoantigens.
[ Symptoms of Omen Syndrome
Steroid therapy of cutaneous manifestations has little effect. This syndrome differs from other forms of CIN in the absence of lymphopenia. In contrast, the lymphocyte count is markedly elevated in many patients. Circulating lymphocytes in patients with Omen syndrome are activated T cells, often carrying markers of both activated lymphocytes and memory cells. T lymphocytes mainly secrete Th2 cytokines, which probably explains the eosinophilia and increased IgE levels. The number of circulating B lymphocytes and serum immunoglobulins A, M, G is markedly reduced. The histological picture is characterized by an abnormal structure of the lymphoid organs (absence of lymphoid follicles in the lymph nodes, spleen, Peyer's patches, and thymic hypoplasia with absence of Hassall's bodies); infiltration of lymphoid organs, skin, lungs and liver by cells that have the characteristics of Langerhans cells but do not contain Birbeck granules specific to them; T-lymphocytes and eosinophils.
Some patients experience only some of the symptoms of Omen syndrome, a condition called atypical Omen syndrome.
Treatment and prognosis of Omen syndrome
By 2001, 68 patients with Omen syndrome had been described, and the only treatment was bone marrow transplantation. According to published data, 28 patients underwent TCM, with complete immunological recovery occurring in 15 patients and post-transplant mortality of 46%. At the transplantation preparation stage, a good effect of IFN-y and steroid therapy of skin manifestations was noted.
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