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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Nezelof syndrome ： ウィキペディア英語版 Nezelof syndrome Nezelof syndrome (also known as "Thymic dysplasia with normal immunoglobulins") is an autosomal recessive congenital immunodeficiency condition due to underdevelopment of the thymus. An association with CD44 has been proposed. The defect is a type of purine nucleoside phosphorylase deficiency with inactive phosphorylase. This results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase. Ribonucleotide reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides. Thus, DNA replication is inhibited and cells cannot replicate. ==History== The disorder was characterized in 1964. It is considered to be a form of combined immunodeficiency in ICD-10 but a deficiency of cell-mediated immunity in ICD-9. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Nezelof syndrome」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.