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RAS-associated autoimmune leukoproliferative disorder : ウィキペディア英語版 | RAS-associated autoimmune leukoproliferative disorder RALD (RAS-associated autoimmune leukoproliferative disorder) is a rare genetic disorder of the immune system. RALD is characterized by lymphadenopathy, splenomegaly, autoimmunity, and elevation in granulocytes and monocytes. It shares many features with autoimmune lymphoproliferative syndrome and is caused by somatic mutations in NRAS or KRAS. This was first described by investigators João Oliveira and Michael Lenardo from the National Institutes of Health. ==Genetics== RALD is caused by gain-of-function somatic mutations in the genes NRAS or KRAS. NRAS and KRAS are members of the RAS subfamily and are implicated in many types of cancer.〔(【引用サイトリンク】url=http://omim.org/entry/164790 )〕 Somatic mutations are changes in DNA that occur after conception. Although generally somatic mutations can develop in any cell of the body, in RALD the somatic mutations only reside in the blood cells. Because these mutations are acquired and not in the germline, they cannot be inherited or passed on to children.
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「RAS-associated autoimmune leukoproliferative disorder」の詳細全文を読む
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