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

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2011年 / 33卷 / 01期

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

页码：E39 / E42

页数：4

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