| SAP-expressing T peripheral helper cells identify systemic lupus erythematosus patients with lupus nephritis. | SAP-expressing T peripheral helper cells identify systemic lupus erythematosus patients with lupus nephritis.
Gartshteyn Y, Geraldino-Pardilla L, Khalili L, Bukhari S, Lerrer S, Winchester RJ, Askanase AD, Mor A., Free PMC Article | 04/3/2024 |
| Overexpression of SH2D1A promotes cancer progression and is associated with immune cell infiltration in hepatocellular carcinoma via bioinformatics and in vitro study. | Overexpression of SH2D1A promotes cancer progression and is associated with immune cell infiltration in hepatocellular carcinoma via bioinformatics and in vitro study.
Xiang QM, Jiang N, Liu YF, Wang YB, Mu DA, Liu R, Sun LY, Zhang W, Guo Q, Li K., Free PMC Article | 11/1/2023 |
| Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naive Boy Is Associated With a Novel SH2D1A Mutation. | Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation.
Steininger J, Rossmanith R, Geier CB, Leiss-Piller A, Thonhauser L, Weiss S, Hainfellner JA, Freilinger M, Schmidt WM, Eibl MM, Wolf HM., Free PMC Article | 02/12/2022 |
| Epstein-Barr Virus-Negative Granulomatous Disease Due to SAP Deficiency. | Epstein-Barr Virus-Negative Granulomatous Disease Due to SAP Deficiency.
Karasawa T, Kudo K, Tanita K, Takahashi Y, Kanegane H, Terui K. | 02/5/2022 |
| SLAM/SAP Decreased Follicular Regulatory T Cells in Patients with Graves' Disease. | SLAM/SAP Decreased Follicular Regulatory T Cells in Patients with Graves' Disease.
Geng L, Yang J, Tang X, Peng H, Tian J, Hu Z, Liu Y, Xu H, Wang S., Free PMC Article | 12/4/2021 |
| SAP interacts with CD28 to inhibit PD-1 signaling in T lymphocytes. | SAP interacts with CD28 to inhibit PD-1 signaling in T lymphocytes.
Sandigursky S, Philips MR, Mor A., Free PMC Article | 02/6/2021 |
| Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease. | Diagnostic challenges for a novel SH2D1A mutation associated with X-linked lymphoproliferative disease.
Torralba-Raga L, Tesi B, Chiang SCC, Schlums H, Nordenskjöld M, Horne A, Henter JI, Meeths M, Abdelhaleem M, Weitzman S, Bryceson Y. | 07/4/2020 |
| A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease. | A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease.
Furlong E, Carter TL, Williams A, Wong M, Ramachandran S, Kotecha RS. | 04/18/2020 |
| hese data indicate NK cell-mediated cytotoxicity is not equally affected in Acute lymphoblastic leukemia (ALL) patients, nevertheless a positive correlation between low SAP expression and decreased NK cell-mediated cytotoxicity was observed in ALL patients with a leukocyte count >/=50,000xmm3 | Functional characterization of NK cells in Mexican pediatric patients with acute lymphoblastic leukemia: Report from the Mexican Interinstitutional Group for the Identification of the Causes of Childhood Leukemia.
Valenzuela-Vazquez L, Núñez-Enríquez JC, Sánchez-Herrera J, Jiménez-Hernández E, Martín-Trejo JA, Espinoza-Hernández LE, Medina-Sanson A, Flores-Villegas LV, Peñaloza-González JG, Refugio Torres-Nava J, Espinosa-Elizondo RM, Amador-Sánchez R, Santillán-Juárez JD, Flores-Lujano J, Pérez-Saldívar ML, García-López LR, Castañeda-Echevarría A, Rodríguez-Leyva F, Rosas-Vargas H, Mata-Rocha M, Duarte-Rodríguez DA, Sepúlveda-Robles OA, Mancilla-Herrera I, Mejía-Aranguré JM, Cruz-Munoz ME., Free PMC Article | 04/11/2020 |
| A new SH2D1A mutation in a female adult XLP disease with hemophagocytic lymphohistiocytosis and NK-cell leukemia. | A new SH2D1A mutation in a female adult XLP disease with hemophagocytic lymphohistiocytosis and NK-cell leukemia.
Liang JH, Zhu HY, Xu DM, Wang L, Wang Y, Qiao C, Wu YJ, Wang R, Li JY, Xu W. | 12/21/2019 |
| 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. | Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report.
Lyu X, Guo Z, Li Y, Fan R, Song Y., Free PMC Article | 03/2/2019 |
| miR-126 inhibits the migration of malignant glioma cells by inhibiting MTCP1. | miR-126 Suppresses Invasion and Migration of Malignant Glioma by Targeting Mature T Cell Proliferation 1 (MTCP1).
Han L, Liu H, Wu J, Liu J., Free PMC Article | 12/22/2018 |
| these results showed that the NTB-A/SAP pathway regulates T-cell activation and restimulation-induced cell death during human tuberculosis | Restimulation-induced T-cell death through NTB-A/SAP signaling pathway is impaired in tuberculosis patients with depressed immune responses.
Hernández Del Pino RE, Pellegrini JM, Rovetta AI, Peña D, Álvarez GI, Rolandelli A, Musella RM, Palmero DJ, Malbran A, Pasquinelli V, García VE., Free PMC Article | 06/23/2018 |
| this paper shows that the X-linked lymphoproliferative disease gene product SAP regulates signals induced through the co-receptor SLAM | Pillars Article: The X-Linked Lymphoproliferative Disease Gene Product SAP Regulates Signals Induced through the Co-Receptor SLAM. Nature. 1998. 395: 462-469.
Sayos J, Wu C, Morra M, Wang N, Zhang X, Allen D, van Schaik S, Notarangelo L, Geha R, Roncarolo MG, Oettgen H, De Vries JE, Aversa G, Terhorst C. | 02/17/2018 |
| 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. | X-linked Lymphoproliferative Disease Type 1 in a Patient With the p.Gly93Asp SH2D1A Gene Mutation and Hemophagocytic Lymphohistiocytosis.
de la Varga-Martínez R, Mora-López F, García-Cuesta D, Garrastazul-Sánchez MP, Quintero S, Rodríguez C, Sampalo A. | 11/4/2017 |
| this study shows reduced intracellular SAP expression in iNKT cells and other lymphocytes in the blood from common variable immunodeficiency | Skewed Invariant Natural Killer T (iNKT) Cells, Impaired iNKT:B Cell Help and Decreased SAP Expression in Blood Lymphocytes from Patients with Common Variable Immunodeficiency.
Erazo-Borrás LV, Álvarez-Álvarez JA, Perez-Romero CA, Orrego-Arango JC, Franco-Restrepo JL, Trujillo-Vargas CM. | 11/4/2017 |
| in X-linked lymphoproliferative disease patients, SAP deficiency reduces CD74 expression, resulting in the perturbation of B cell maintenance from the naive stage | T Cells Regulate Peripheral Naive Mature B Cell Survival by Cell-Cell Contact Mediated through SLAMF6 and SAP.
Radomir L, Cohen S, Kramer MP, Bakos E, Lewinsky H, Barak A, Porat Z, Bucala R, Stepensky P, Becker-Herman S, Shachar I., Free PMC Article | 11/4/2017 |
| 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. | Decreased SAP Expression in T Cells from Patients with Systemic Lupus Erythematosus Contributes to Early Signaling Abnormalities and Reduced IL-2 Production.
Karampetsou MP, Comte D, Kis-Toth K, Terhorst C, Kyttaris VC, Tsokos GC., Free PMC Article | 08/5/2017 |
| High LAT1 expression correlated with significantly shorter prostate specific antigen recurrence-free survival in patients receiving androgen deprivation therapy | Up-Regulation of LAT1 during Antiandrogen Therapy Contributes to Progression in Prostate Cancer Cells.
Xu M, Sakamoto S, Matsushima J, Kimura T, Ueda T, Mizokami A, Kanai Y, Ichikawa T. | 12/17/2016 |
| 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. | Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene.
Tóth B, Soltész B, Gyimesi E, Csorba G, Veres Á, Lányi Á, Kovács G, Maródi L, Erdős M. | 11/5/2016 |
| no association between genetic polymorphism and X-linked lymphoproliferative disease in pediatric patients in Iran | Study of SH2D1A gene mutation in paediatric patients with B-cell lymphoma.
Koochakzadeh L, Hosseinverdi S, Hedayat M, Farahani F, Tofighi A, Eghbali M, Bidoki AZ, Izadyar M, Rahiminejad MS, Ramyar A, Aghamohammadi A, Rezaei N. | 09/3/2016 |
| novel missense mutation in Australian patient with cerebral vasculitis in X-linked lymphoproliferative disease | Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant.
Gray PE, O'Brien TA, Wagle M, Tangye SG, Palendira U, Roscioli T, Choo S, Sutton R, Ziegler JB, Frith K. | 08/20/2016 |
| 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'. | A hematopoietic cell-driven mechanism involving SLAMF6 receptor, SAP adaptors and SHP-1 phosphatase regulates NK cell education.
Wu N, Zhong MC, Roncagalli R, Pérez-Quintero LA, Guo H, Zhang Z, Lenoir C, Dong Z, Latour S, Veillette A. | 08/13/2016 |
| The mutation c.131G>A in this patient was found in combination with a second SH2D1A mutation | The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation.
Overwater E, Smulders Y, van der Burg M, Lombardi MP, Meijers-Heijboer HE, Kuijpers TW, Houweling AC. | 07/25/2015 |
| 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 | Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis.
Meazza R, Tuberosa C, Cetica V, Falco M, Parolini S, Grieve S, Griffiths GM, Sieni E, Marcenaro S, Micalizzi C, Montin D, Fagioli F, Moretta A, Mingari MC, Moretta L, Notarangelo LD, Bottino C, Aricò M, Pende D., Free PMC Article | 02/7/2015 |