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we describe for the first time the clinical manifestations associated with XLP-1 based on the c.278G>A variant in the SH2D1A gene. The patient had a relatively late age of onset and presented mainly with primary HLH associated with EBV infection without a familial history of immunodeficiency.
this study shows reduced intracellular SAP (显示 APCS ELISA试剂盒) expression in iNKT cells and other lymphocytes in the blood from common variable immunodeficiency
in X-linked lymphoproliferative disease patient (显示 APCS ELISA试剂盒)s, SAP deficiency reduces CD74 expression, resulting in the perturbation of B cell maintenance from the naive stage
study concludes that systemic lupus erythematosus (SLE) T cells display reduced levels of the adaptor protein SAP (显示 APCS ELISA试剂盒), probably as a result of continuous T cell activation and degradation by caspase-3 (显示 CASP3 ELISA试剂盒). Restoration of SAP (显示 APCS ELISA试剂盒) levels in SLE T cells corrects the overexcitable lupus T cell phenotype.
High LAT1 expression correlated with significantly shorter prostate specific antigen recurrence-free survival in patients receiving androgen deprivation therapy
We describe here a novel c.137+5G > A intronic mutation in the SH2D1A gene of the signaling lymphocyte activation molecule (SLAM (显示 SLAMF1 ELISA试剂盒))-associated protein (SAP) in association with Epstein-Barr virus (EBV)-induced fatal infectious mononucleosis (FIM (显示 ZMYM2 ELISA试剂盒)) in an 8-year-old male patient and his 3-year-old step brother. The mother and the maternal grandmother of the boys are healthy and heterozygous for this sequence variant.
In addition to their role in NK cell activation by hematopoietic cells, the SLAM-SAP-SHP1 pathways influence responsiveness toward nonhematopoietic targets by a process akin to NK cell 'education'.
The mutation c.131G>A in this patient was found in combination with a second SH2D1A mutation
Study of SAP (显示 APCS ELISA试剂盒) expression is specific but may have insufficient sensitivity for screening XLP1 as a single tool; however, combination with 2B4 (显示 CD244 ELISA试剂盒) functional assay allows identification of all cases
Molecular dynamics analysis revealed that mutant R32Q and T53I structures of SAP (显示 APCS ELISA试剂盒) exhibited structural variation with respect to their backbone atoms before and after binding with the unphosphorylated SLAM (显示 SLAMF1 ELISA试剂盒) peptide.
naive T cells regulate B cell survival in a SAP (显示 APCS ELISA试剂盒)-dependent manner
SAP (显示 APCS ELISA试剂盒)-dependent activating SFR signaling is essential for NKT (显示 CTSL1 ELISA试剂盒) cell selection.
SAP (显示 APCS ELISA试剂盒) differentially regulates the late-stage lineage decisions of iNKT cell subsets. These results also provide evidence that iNKT1, iNKT2, and iNKT17 cells are differentially regulated by SAP (显示 APCS ELISA试剂盒). SAP (显示 APCS ELISA试剂盒)-dependent signals are essential for the fate decisions that drive the differentiation of iNKT2 but not iNKT1 and NKT17 cells.
SAP (显示 APCS ELISA试剂盒) is an essential molecule for autoimmune antibody production.
SLAM (显示 SLAMF1 ELISA试剂盒)-SAP (显示 APCS ELISA试剂盒) signaling promotes differentiation of IL-17 (显示 IL17A ELISA试剂盒)-producing T cells and progression of experimental autoimmune encephalomyelitis.
these data suggest that SAP (显示 APCS ELISA试剂盒) is critical for regulating type II NKT (显示 CTSL1 ELISA试剂盒) cell responses.
functional analysis in vitro indicates that SAP-2 is a non-functional isoform due to decreased protein stability
Here we report that B cell intrinsic responses to haptenated protein antigens are impaired in SAP (显示 APCS ELISA试剂盒)-/- mice and in Rag-/- mice into which B cells derived from SAP (显示 APCS ELISA试剂盒)-/- mice together with wt CD4 (显示 CD4 ELISA试剂盒)+ T cells had been transferred.
SAP (显示 APCS ELISA试剂盒) plays an essential role in CIA (显示 NCOA5 ELISA试剂盒) because of Fyn (显示 FYN ELISA试剂盒)-independent and Fyn (显示 FYN ELISA试剂盒)-dependent effects on TFH cells and, possibly, other T cell types.
This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene.
Duncan disease SH2-protein
, SH2 domain-containing protein 1A
, SLAM associated protein/SH2 domain protein 1A
, SLAM-associated protein
, T cell signal transduction molecule SAP
, T-cell signal transduction molecule SAP
, signaling lymphocyte activation molecule-associated protein
, signaling lymphocytic activation molecule-associated protein
, SH2 domain protein 1A
, SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome)
, Signaling lymphocytic activation molecule-associated protein
, Duncan disease homolog