A unique clinical presentation of X-linked lymphoproliferative syndrome with a novel mutation in SH2D1A and review of the literature.
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.
Department of Pediatrics, Division of Hematology/Oncology, Vanderbilt University, School of Medicine, USA.
Michael J
MJ
Eckrich
Elizabeth
E
Yang
Jennifer
J
Domm
Richard
R
Ho
Cassie
C
Calder
Becky
B
Manes
Jack
J
Bleesing
Haydar
H
Frangoul
D000293:Adolescent; D016026:Bone Marrow Transplantation; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008232:Lymphoproliferative Disorders / Q000235:genetics* / Q000628:therapy; D008297:Male; D020125:Mutation, Missense; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D014019:Tissue Donors
D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein