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Journal article

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.

Abstract:

X-linked lymphoproliferative disease (XLP1) is a rare immunodeficiency characterized by severe immune dysregulation and caused by mutations in the SH2D1A/SAP gene. Clinical manifestations are varied and include hemophagocytic lymphohistiocytosis (HLH), lymphoma and dysgammaglobulinemia, often triggered by Epstein-Barr virus infection. Historical data published before improved treatment regimens shows very poor outcome. We describe a large cohort of 91 genetically defined XLP1 patients collect...

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Publication status:
Published

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Journal:
Blood
Volume:
117
Issue:
1
Pages:
53-62
Publication date:
2011-01-05
DOI:
EISSN:
1528-0020
ISSN:
0006-4971
URN:
uuid:c1acc40b-3815-4eb5-a133-2d95e2fcb6f2
Source identifiers:
112670
Local pid:
pubs:112670

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