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.
机构:
Childrens Hosp Philadelphia, Infect Dis Fellowship Training Program, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA
Bassiri, Hamid
Yeo, W. C. Janice
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Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA
Yeo, W. C. Janice
Rothman, Jennifer
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Childrens Hosp Philadelphia, Hematol Oncol Fellowship Training Program, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA
Rothman, Jennifer
Koretzky, Gary A.
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机构:
Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA
Abramson Family Canc Res Inst, Philadelphia, PA USA
Univ Penn, Dept Med, Div Rheumatol, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA
Koretzky, Gary A.
Nichols, Kim E.
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机构:
Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA
机构:
Childrens Hosp Philadelphia, Infect Dis Fellowship Training Program, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA
Bassiri, Hamid
Yeo, W. C. Janice
论文数: 0引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA
Yeo, W. C. Janice
Rothman, Jennifer
论文数: 0引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Hematol Oncol Fellowship Training Program, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA
Rothman, Jennifer
Koretzky, Gary A.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA
Abramson Family Canc Res Inst, Philadelphia, PA USA
Univ Penn, Dept Med, Div Rheumatol, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA
Koretzky, Gary A.
Nichols, Kim E.
论文数: 0引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USAChildrens Hosp Philadelphia, Div Oncol, Philadelphia, PA 19104 USA