2011年2月3日 · XLP type 1 (XLP-1) is caused by mutations in the gene SH2D1A (also named SAP), whereas mutations in the gene XIAP underlie XLP type 2 (XLP-2). Here, a comparison of the clinical phenotypes associated with XLP-1 and XLP-2 was performed in cohorts of 33 and 30 patients, respectively.

Among primary HLH-related genes, SH2D1A and XIAP are genetically responsible for X-linked lymphoproliferative syndrome (XLP) due to signaling-lymphocytic-activation-molecule-associated protein (SAP) and XIAP deficiencies, respectively. XLP is characterized by extreme vulnerability to Epstein-Barr virus infection.

淋巴细胞活化信号分子结合蛋白 (SAP)基因突变导致人类X连锁淋巴组织增生综合征 (XLP)，表现为多种严重免疫缺陷，如自然杀伤细胞 (NK)功能低下、自然杀伤T细胞 (NKT)发育受损和无丙种球蛋白血症等。 董忠军课题组长期致力于X连锁淋巴组织增生综合征免疫缺陷机理研究，曾发现淋巴细胞活化信号分子结合蛋白 (SAP)缺失的自然杀伤细胞偏向性不能杀伤血液细胞《自然免疫学》 …

x-连锁淋巴组织细胞异常增生症(xlp)是一种少见、致死性强的原发性免疫缺陷病。xlp在男性人群中的发病率约为(2～3)/10 6 。xlp可以被分为2型：sh2d1a基因突变所致的xlp-1型和xiap基因突变所致的xlp-2型。xlp临床表现多样，常由eb病毒(ebv)感染所诱发。

Flow cytometry can be used to measure lymphocyte SAP or XIAP protein expression, and can also be used to observe lymphocyte phenotypes and functional defects that are unique to XLP. This review will give a brief overview of the clinical manifestations and molecular basis of SAP deficiency and XIAP deficiency, and will focus on the use of flow ...

2011年1月1日 · 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.

2011年2月3日 · XLP type 1 (XLP-1) is caused by mutations in the gene SH2D1A (also named SAP), whereas mutations in the gene XIAP underlie XLP type 2 (XLP-2). Here, a comparison of the clinical phenotypes associated with XLP-1 and XLP-2 was performed in cohorts of 33 and 30 patients, respectively.

1998年10月1日 · We now show that a T-cell-specific, SLAM-associated protein (SAP), which contains an SH2 domain and a short tail, acts as an inhibitor by blocking recruitment of the...

Mutations that affect the adaptor molecule SLAM-associated protein (SAP) lead to the genetic disorder X-linked lymphoproliferative syndrome (XLP), which is characterized by severe, often...

XLP is caused by loss-of function mutations in SH2D1A, which encodes the intracellular adaptor molecule SAP. SAP is predominantly expressed in T cells and NK cells, and functions to regulate signal transduction pathways downstream of the SLAM family of surface receptors to control CD4+ T cell (and by extension B cells), CD8+ T cell and NK cell ...