Syn.: Omenn syndrome, Omenn’s syndrome, familial reticuloendotheliosis with eozynophilia, severe combined immunodeficiency with hypereosinophilia.
Def .: Primary immunodeficiency from the group of complex immunodeficiencies.
Epid .: A rare variant of SCID.
Etiol .: Mutation within the RAG1 and RAG2 genes on chromosome 11p or the Artemis gene on chromosome 10p.
Clinical: Chronic, with a tendency to recur, protracted and generalized, infections with opportunistic microorganisms, complications after vaccinations with live vaccines, chronic diarrhea. Characteristic skin lesions of the exfoliating erythrodermic type, often with epidermal necrolysis, occur in the first weeks of life. Lymphadenopathy and hepatosplenomegaly.
Hist .: Skin biopsy: epidermal hyperplasia with parakeratosis, cellular dyskeratosis and necrosis. Also infiltrates of activated T lymphocytes (CD45RO + DR +) with CD30 co-expression. In lymph nodes, there is a large component of activated T lymphocytes co-expressing CD30.
DL: Eosinophilia, hypoproteinemia and high IgE levels.
DI: Lack of B lymphocytes, poor T lymphocyte response to mitogen, low serum immunoglobulin levels, circulating activated T lymphocytes mainly secrete Th 2 cytokines – increase in serum IL-4 and IL-5 levels.
DR: Other SCID syndromes, hyper-IgE syndrome, histiocytosis, atopic dermatitis, other primary immunodeficiencies.
Treatment: Bone marrow transplant, specific treatment of dermatitis and eosinophils (cyclosporine), IVIG supplementation.
Year: Bad, no bone marrow transplant possible.
Lit.: [1] Aleman K., Noordzij J.G., de Groot R. i wsp.: Reviewing Omenn syndrome. Eur J Pediatr 2001, 160; 718-25. [2] Santagata S., Villa A., Sobacchi C. i wsp.: Thegenetic and biochemical basis of Omenn syndrome. Immunol Rev 2000, 178; 64-74.
Source: A. Kaszuba, Z. Adamski: “Lexicon of dermatology”; XNUMXst edition, Czelej Publishing House