SH2 Domain Containing 1A Proteine (SH2D1A)

Human SH2 Domain Containing 1A (SH2D1A) Interaktionspartner

1. this paper shows that the X-linked lymphoproliferative disease gene product SAP (zeige APCS Proteine) regulates signals induced through the co-receptor SLAM (zeige SLAMF1 Proteine)

2. 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.

3. this study shows reduced intracellular SAP (zeige APCS Proteine) expression in iNKT cells and other lymphocytes in the blood from common variable immunodeficiency

4. in X-linked lymphoproliferative disease patient (zeige APCS Proteine)s, SAP deficiency reduces CD74 expression, resulting in the perturbation of B cell maintenance from the naive stage

5. study concludes that systemic lupus erythematosus (SLE) T cells display reduced levels of the adaptor protein SAP (zeige APCS Proteine), probably as a result of continuous T cell activation and degradation by caspase-3 (zeige CASP3 Proteine). Restoration of SAP (zeige APCS Proteine) levels in SLE T cells corrects the overexcitable lupus T cell phenotype.

6. High LAT1 expression correlated with significantly shorter prostate specific antigen recurrence-free survival in patients receiving androgen deprivation therapy

7. We describe here a novel c.137+5G > A intronic mutation in the SH2D1A gene of the signaling lymphocyte activation molecule (SLAM (zeige SLAMF1 Proteine))-associated protein (SAP) in association with Epstein-Barr virus (EBV)-induced fatal infectious mononucleosis (FIM) 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.

8. 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'.

9. The mutation c.131G>A in this patient was found in combination with a second SH2D1A mutation

10. Study of SAP (zeige APCS Proteine) expression is specific but may have insufficient sensitivity for screening XLP1 as a single tool; however, combination with 2B4 (zeige CD244 Proteine) functional assay allows identification of all cases

Mouse (Murine) SH2 Domain Containing 1A (SH2D1A) Interaktionspartner

1. naive T cells regulate B cell survival in a SAP (zeige APCS Proteine)-dependent manner

2. SAP (zeige APCS Proteine)-dependent activating SFR signaling is essential for NKT (zeige CTSL1 Proteine) cell selection.

3. SAP (zeige APCS Proteine) 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 (zeige APCS Proteine). SAP (zeige APCS Proteine)-dependent signals are essential for the fate decisions that drive the differentiation of iNKT2 but not iNKT1 and NKT17 cells.

4. SAP (zeige APCS Proteine) is an essential molecule for autoimmune antibody production.

5. 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'.

6. SLAM (zeige SLAMF1 Proteine)-SAP (zeige APCS Proteine) signaling promotes differentiation of IL-17 (zeige IL17A Proteine)-producing T cells and progression of experimental autoimmune encephalomyelitis.

7. these data suggest that SAP (zeige APCS Proteine) is critical for regulating type II NKT (zeige CTSL1 Proteine) cell responses.

8. functional analysis in vitro indicates that SAP-2 is a non-functional isoform due to decreased protein stability

9. Here we report that B cell intrinsic responses to haptenated protein antigens are impaired in SAP (zeige APCS Proteine)-/- mice and in Rag-/- mice into which B cells derived from SAP (zeige APCS Proteine)-/- mice together with wt CD4 (zeige CD4 Proteine)+ T cells had been transferred.

10. SAP (zeige APCS Proteine) plays an essential role in CIA (zeige NCOA5 Proteine) because of Fyn (zeige FYN Proteine)-independent and Fyn (zeige FYN Proteine)-dependent effects on TFH cells and, possibly, other T cell types.