| A unique clinical presentation of X-linked lymphoproliferative syndrome with a novel mutation in SH2D1A and review of the literature. | |
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MedLine Citation:
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PMID: 20975587 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Michael J Eckrich; Elizabeth Yang; Jennifer Domm; Richard Ho; Cassie Calder; Becky Manes; Jack Bleesing; Haydar Frangoul |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Journal of pediatric hematology/oncology Volume: 33 ISSN: 1536-3678 ISO Abbreviation: J. Pediatr. Hematol. Oncol. Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2010-12-23 Completed Date: 2011-02-18 Revised Date: 2011-10-06 |
Medline Journal Info:
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Nlm Unique ID: 9505928 Medline TA: J Pediatr Hematol Oncol Country: United States |
Other Details:
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Languages: eng Pagination: e39-42 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Division of Hematology/Oncology, Vanderbilt University, School of Medicine, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Bone Marrow Transplantation Humans Intracellular Signaling Peptides and Proteins / genetics* Lymphoproliferative Disorders / genetics*, therapy Male Mutation, Missense Tissue Donors |
| Chemical | |
Reg. No./Substance:
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0/Intracellular Signaling Peptides and Proteins; 0/SH2D1A protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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