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The nonsense mutation in SH2D1A (NM_002351.4:c.300T>A) was reported for the first time in a case of X-linked lymphoproliferative syndrome type 1 (XLP1) and was considered to be likely pathogenic based on the truncation of the mRNA sequence. This finding expands the spectrum of known XLP-related mutations in Chinese patients.
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miR-126 inhibits the migration of malignant glioma cells by inhibiting MTCP1.
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these results showed that the NTB-A/SAP pathway regulates T-cell activation and restimulation-induced cell death during human tuberculosis
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this paper shows that the X-linked lymphoproliferative disease gene product SAP regulates signals induced through the co-receptor SLAM
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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.
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this study shows reduced intracellular SAP expression in iNKT cells and other lymphocytes in the blood from common variable immunodeficiency
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in X-linked lymphoproliferative disease patients, SAP deficiency reduces CD74 expression, resulting in the perturbation of B cell maintenance from the naive stage
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study concludes that systemic lupus erythematosus (SLE) T cells display reduced levels of the adaptor protein SAP, probably as a result of continuous T cell activation and degradation by caspase-3. Restoration of SAP levels in SLE T cells corrects the overexcitable lupus T cell phenotype.
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High LAT1 expression correlated with significantly shorter prostate specific antigen recurrence-free survival in patients receiving androgen deprivation therapy
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We describe here a novel c.137+5G > A intronic mutation in the SH2D1A gene of the signaling lymphocyte activation molecule (SLAM)-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.
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no association between genetic polymorphism and X-linked lymphoproliferative disease in pediatric patients in Iran
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novel missense mutation in Australian patient with cerebral vasculitis in X-linked lymphoproliferative disease
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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'.
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The mutation c.131G>A in this patient was found in combination with a second SH2D1A mutation
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Study of SAP expression is specific but may have insufficient sensitivity for screening XLP1 as a single tool; however, combination with 2B4 functional assay allows identification of all cases
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Molecular dynamics analysis revealed that mutant R32Q and T53I structures of SAP exhibited structural variation with respect to their backbone atoms before and after binding with the unphosphorylated SLAM peptide.
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Signaling lymphocytic activation molecule (SLAM)/SLAM-associated protein pathway regulates human B-cell tolerance.
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In patients suffering from X-linked lymphoproliferative disease (XLP1), SAP is nonfunctional, not only abolishing the activating function of 2B4, but rendering this receptor inhibitory.
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our data reveal how SAP nucleates a previously unknown signaling complex involving NTB-A and LCK to potentiate restimulation-induced cell death of activated human T cells.
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SAP is a new actor downstream of PECAM-1 and its binding regulates PECAM-1 mediated cell adhesion.
