A Unique Clinical Presentation of X-Linked Lymphoproliferative Syndrome With a Novel Mutation in SH2D1A and Review of the Literature

被引:1
作者
Eckrich, Michael J. [1 ]
Yang, Elizabeth [1 ]
Domm, Jennifer [1 ]
Ho, Richard [1 ]
Calder, Cassie [1 ]
Manes, Becky [1 ]
Bleesing, Jack [2 ]
Frangoul, Haydar [1 ]
机构
[1] Vanderbilt Univ, Sch Med, Dept Pediat, Div Hematol Oncol, Nashville, TN 37232 USA
[2] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH USA
关键词
X-linked lymphoproliferative syndrome; SAP mutation; unrelated donor transplant; EPSTEIN-BARR-VIRUS; HUMORAL IMMUNE-RESPONSES; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; MISSENSE MUTATIONS; DISEASE; INFECTION; DEFICIENCY; PROTEIN; SLAM; SAP;
D O I
10.1097/MPH.0b013e3181e75747
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
X-linked lymphoproliferative syndrome is a well-described syndrome often characterized by progression to fatal infectious mononucleosis. Many mutations of the SH2D1A gene have been identified in patients with X-linked lymphoproliferative syndrome. These mutations are often associated with either decreased or impaired function of the protein product, signaling lymphocytic activation molecule-associated protein. We describe a patient with a novel missense mutation in SH2D1A. We report on his unique presentation, clinical course and subsequent successful treatment with a matched unrelated donor bone marrow transplant.
引用
收藏
页码:E39 / E42
页数:4
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