A Case of Omenn Syndrome Accompanied by Bilateral Cystine Stones: Case Report

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چکیده

Omenn Syndrome (OS) is a rare autosomal recessive form of severe combined immunodeficiency characterized by failure to thrive, erythroderma, persistent diarrhea, lymphadenopathy, hepatosplenomegaly; severe recurrent infections [1]. The syndrome may be accompanied by normal or elevated levels of IgE, lymphocytosis, eosinophilia and hypogammaglobinemia [1]. The syndrome, also known as familial reticuloendotheliosis, was first described by Gilbert Omenn [1] in 1965. The estimated incidence is 1/50000-1/75000, with equal frequency in both genders.

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A Case of Omenn Syndrome Accompanied by Bilateral Cystine Stones: Case Report

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تاریخ انتشار 2018