A unique clinical presentation of X-linked lymphoproliferative syndrome with a novel mutation in SH2D1A and review of the literature.

Eckrich MJ, Yang E, Domm J, Ho R, Calder C, Manes B, Bleesing J, Frangoul H
J Pediatr Hematol Oncol. 2011 33 (1): e39-42

PMID: 20975587 · DOI:10.1097/MPH.0b013e3181e75747

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.

MeSH Terms (9)

Adolescent Bone Marrow Transplantation Humans Intracellular Signaling Peptides and Proteins Lymphoproliferative Disorders Male Mutation, Missense Signaling Lymphocytic Activation Molecule Associated Protein Tissue Donors

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