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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 (show APCS Antibodies) expression in iNKT cells and other lymphocytes in the blood from common variable immunodeficiency
in X-linked lymphoproliferative disease patient (show APCS Antibodies)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 (show APCS Antibodies), probably as a result of continuous T cell activation and degradation by caspase-3 (show CASP3 Antibodies). Restoration of SAP (show APCS Antibodies) 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 (show SLAMF1 Antibodies))-associated protein (SAP) in association with Epstein-Barr virus (EBV)-induced fatal infectious mononucleosis (FIM (show ZMYM2 Antibodies)) 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 (show APCS Antibodies) expression is specific but may have insufficient sensitivity for screening XLP1 as a single tool; however, combination with 2B4 (show CD244 Antibodies) functional assay allows identification of all cases
Molecular dynamics analysis revealed that mutant R32Q and T53I structures of SAP (show APCS Antibodies) exhibited structural variation with respect to their backbone atoms before and after binding with the unphosphorylated SLAM (show SLAMF1 Antibodies) peptide.
naive T cells regulate B cell survival in a SAP (show APCS Antibodies)-dependent manner
SAP (show APCS Antibodies)-dependent activating SFR signaling is essential for NKT (show CTSL1 Antibodies) cell selection.
SAP (show APCS Antibodies) 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 (show APCS Antibodies). SAP (show APCS Antibodies)-dependent signals are essential for the fate decisions that drive the differentiation of iNKT2 but not iNKT1 and NKT17 cells.
SAP (show APCS Antibodies) is an essential molecule for autoimmune antibody production.
SLAM (show SLAMF1 Antibodies)-SAP (show APCS Antibodies) signaling promotes differentiation of IL-17 (show IL17A Antibodies)-producing T cells and progression of experimental autoimmune encephalomyelitis.
these data suggest that SAP (show APCS Antibodies) is critical for regulating type II NKT (show CTSL1 Antibodies) 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 (show APCS Antibodies)-/- mice and in Rag-/- mice into which B cells derived from SAP (show APCS Antibodies)-/- mice together with wt CD4 (show CD4 Antibodies)+ T cells had been transferred.
SAP (show APCS Antibodies) plays an essential role in CIA (show NCOA5 Antibodies) because of Fyn (show FYN Antibodies)-independent and Fyn (show FYN Antibodies)-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.
serum amyloid P-component
, 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
, Duncan disease homolog