Different Phenotypic Presentations of X-Linked Lymphoproliferative Disease in Siblings with Identical Mutations
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DOI: 10.1007/s10875-019-00649-w
Abstract: To the Editor, X-linked lymphoproliferative disease (XLP1) was first described in the 1970s [1] and is a rare primary immunodeficiency (PID) caused by mutations in the SH2D1A gene. This gene encodes the SLAM-associated protein (SAP)… read more here.
Keywords: linked lymphoproliferative; lymphoproliferative disease; sh2d1a gene; family ... See more keywords
Novel Mutations in SH2D1A Gene in X-linked Lymphoproliferative Syndrome, Diagnosed After B-Cell Non-Hodgkin Lymphoma
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000000815
Abstract: Background: X-linked lymphoproliferative disease type I (XLP I) is caused by mutations in the SH2D1A gene and characterized mainly by hypogammaglobulinemia and abnormal response to Epstein-Barr virus with a high predisposition to B-cell non-Hodgkin lymphoma… read more here.
Keywords: linked lymphoproliferative; lymphoma; cell non; hodgkin lymphoma ... See more keywords
A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pediatric Hematology/Oncology"
DOI: 10.1097/mph.0000000000001585
Abstract: To the Editor: X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency characterized by the inability of the affected individual to clear Epstein-Barr virus (EBV) resulting in hemophagocytic lymphohistiocytosis (HLH) in 55% to 76% of… read more here.
Keywords: linked lymphoproliferative; lymphoproliferative disease; missense mutation; level ... See more keywords
Association of BAX G(−248)A and BCL2 C(−717)A polymorphisms with outcome in diffuse large B‐cell lymphoma patients
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DOI: 10.1111/bjh.14089
Abstract: Belmonte, L., Parodi, C., Bar e, P., Malbran, A., Ruibal-Ares, B. & de Bracco, M.M. de E. (2007) Factors involved in the generation of memory CD8 + T cells in patients with X-linked lymphoproliferative disease… read more here.
Keywords: linked lymphoproliferative; ruibal ares; lymphoproliferative disease; cell ... See more keywords
X-Linked Lymphoproliferative Disease in Latvia: A Report of Two Clinically Distinct Cases
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DOI: 10.1155/2020/7108657
Abstract: X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency. Affected individuals usually present with the Epstein–Barr virus infection and have no apparent disease prior to presentation. The most common clinical manifestations are fulminant infectious mononucleosis,… read more here.
Keywords: linked lymphoproliferative; report two; lymphoproliferative disease; disease ... See more keywords