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

作者：Eckrich Michael J; Yang Elizabeth; Domm Jennifer; Ho Richard; Calder Cassie; Manes Becky; Bleesing Jack; Frangoul Haydar^*

来源：Journal of Pediatric Hematology/Oncology, 2011, 33(1): E39-E42.

DOI：10.1097/MPH.0b013e3181e75747

• X-linked lymphoproliferative syndrome
• SAP mutation
• unrelated donor transplant

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.

• 出版日期2011-1