Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report

• Главные авторы: Xiaodong Lyu (Автор), Zhen Guo (Автор), Yangwei Li (Автор), Ruihua Fan (Автор), Yongping Song (Автор)
• Формат: ‌
• Опубликовано: BMC, 2018-04-01T00:00:00Z.
• Предметы: article
• Online-ссылка: Connect to this object online.

Abstract Background X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH). Causative mutations for XLP1 have been identified in SH2D1A, located on chromosome Xq25. Case presentation We repor...