Extended-Synaptotagmin-1 and -2 control T cell signaling and function.

Autor: Benavides N; Department of Microbiology and Immunology-Sidney Kimmel Medical College-Thomas Jefferson University, Philadelphia, PA, USA., Giraudo CG; Department of Microbiology and Immunology-Sidney Kimmel Medical College-Thomas Jefferson University, Philadelphia, PA, USA. Claudio.Giraudo@jefferson.edu.

Publikováno v: EMBO reports [EMBO Rep] 2024 Jan; Vol. 25 (1), pp. 286-303. Date of Electronic Publication: 2023 Dec 19.

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

Autor: Ouahed J; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA., Kelsen JR; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Spessott WA; Department of Microbiology and Immunology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, 19107, USA., Kooshesh K; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Sanmillan ML; Department of Microbiology and Immunology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, 19107, USA., Dawany N; Department of Biomedical Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Sullivan KE; Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Hamilton KE; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Slowik V; Department of Medicine, Division of Gastroenterology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Nejentsev S; Division of Gastroenterology, Hepatology, and Nutrition, Children's Mercy Kansas City, Kansas City, MO, 64108, USA.; Department of Medicine, University of Cambridge, Cambridge, CB2 0QQ, UK., Neves JF; Department of Molecular Cell Biology and Immunology, Amsterdam University Medical Centers, Amsterdam, the Netherlands.; Primary Immunodeficiencies Unit; Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal., Flores H; CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, 1150, Portugal., Chung WK; Gastroenterology Unit, Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal., Wilson A; Gastroenterology Unit, Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal., Anyane-Yeboa K; Gastroenterology Unit, Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal., Wou K; Gastroenterology Unit, Hospital Dona Estefânia-CHLC, EPE, Lisbon, 1169, Portugal., Jain P; Department of Pediatrics, Columbia University Medical Center, New York, NY, 10032, USA.; Department of Medicine, Columbia University Medical Center, New York, NY, 10032, USA., Field M; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA., Tollefson S; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA., Dent MH; Department of Genetics, Yale University, New Haven, CT, 06510, USA., Li D; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA., Naito T; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA., McGovern DPB; F. Widjaja Foundation Inflammatory Bowel and Immunobiology Research Institute, Cedars-Sinai Medical Center, Los Angeles, CA, 90048, USA., Kwong AC; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.; Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Taliaferro F; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Ordovas-Montanes J; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Program in Immunology, Harvard Medical School, Boston, MA, 02115, USA.; Harvard Stem Cell Institute, Cambridge, MA, 02138, USA., Horwitz BH; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.; Division of Emergency Medicine, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA., Kotlarz D; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, 80337, Germany., Klein C; Dr. von Hauner Children's Hospital, Department of Pediatrics, University Hospital LMU Munich, Munich, 80337, Germany., Evans J; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL 32207, USA., Dorsey J; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, FL 32207, USA., Warner N; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada., Elkadri A; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada., Muise AM; SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics and Biochemistry, University of Toronto, Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada., Goldsmith J; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA., Thompson B; Primary Immunodeficiency Group, III Theme, Institute of Cellular Medicine, Newcastle University, Newcastle, NE2 4HH, UK., Engelhardt KR; Primary Immunodeficiency Group, III Theme, Institute of Cellular Medicine, Newcastle University, Newcastle, NE2 4HH, UK., Cant AJ; Primary Immunodeficiency Group, III Theme, Institute of Cellular Medicine, Newcastle University, Newcastle, NE2 4HH, UK.; Children's Immunology Service, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, NE1 4LP, UK., Hambleton S; Primary Immunodeficiency Group, III Theme, Institute of Cellular Medicine, Newcastle University, Newcastle, NE2 4HH, UK.; Children's Immunology Service, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, NE1 4LP, UK., Barclay A; Department of Paediatric Gastroenterology, Royal Hospital for Children, Glasgow, G51 4TF, UK., Toth-Petroczy A; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany.; Center for Systems Biology Dresden, Dresden, Germany., Vuzman D; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Carmichael N; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Bodea C; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Cassa CA; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Devoto M; Division of Human Genetics, The Children's Hospital of Philadelphia, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Translational and Precision Medicine, University Sapienza, Rome 00185, Italy.; CNR-IRGB, Cagliari 09042, Italy., Maas RL; Brigham Genomic Medicine Program, Division of Genetics, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA., Behrens EM; Division of Rheumatology, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA., Giraudo CG; Department of Microbiology and Immunology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, 19107, USA., Snapper SB; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital, and Harvard Medical School, Boston, MA, 02115, USA.; Division of Gastroenterology, Department of Medicine, Brigham & Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.

Publikováno v: Journal of Crohn's & colitis [J Crohns Colitis] 2021 Nov 08; Vol. 15 (11), pp. 1908-1919.

STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis.

Autor: Benavides N; Department of Microbiology and Immunology- Sydney Kimmel Medical College- Thomas Jefferson University, Philadelphia, PA, United States., Spessott WA; Department of Microbiology and Immunology- Sydney Kimmel Medical College- Thomas Jefferson University, Philadelphia, PA, United States., Sanmillan ML; Department of Microbiology and Immunology- Sydney Kimmel Medical College- Thomas Jefferson University, Philadelphia, PA, United States., Vargas M; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, United States., Livingston MS; Department of Pediatric Hematology-Oncology, Children's Minnesota, Minneapolis, MN, United States., Erickson N; Minnesota Gastroenterology, P.A., Minneapolis, MN, United States., Pozos TC; Department of Immunology, Children's Minnesota, Minneapolis, MN, United States., McCormick ME; Department of Microbiology and Immunology- Sydney Kimmel Medical College- Thomas Jefferson University, Philadelphia, PA, United States., Scharrig E; Department of Microbiology and Immunology- Sydney Kimmel Medical College- Thomas Jefferson University, Philadelphia, PA, United States., Messinger YH; Department of Pediatric Hematology-Oncology, Children's Minnesota, Minneapolis, MN, United States., Giraudo CG; Department of Microbiology and Immunology- Sydney Kimmel Medical College- Thomas Jefferson University, Philadelphia, PA, United States.

Publikováno v: Frontiers in immunology [Front Immunol] 2020 Oct 08; Vol. 11, pp. 545414. Date of Electronic Publication: 2020 Oct 08 (Print Publication: 2020).

SM protein Munc18-2 facilitates transition of Syntaxin 11-mediated lipid mixing to complete fusion for T-lymphocyte cytotoxicity.

Autor: Spessott WA; Division of Cell Pathology, Department of Pathology and Laboratory Medicine, University of Pennsylvania-Children's Hospital of Philadelphia, Philadelphia PA 19104., Sanmillan ML; Division of Cell Pathology, Department of Pathology and Laboratory Medicine, University of Pennsylvania-Children's Hospital of Philadelphia, Philadelphia PA 19104., McCormick ME; Division of Cell Pathology, Department of Pathology and Laboratory Medicine, University of Pennsylvania-Children's Hospital of Philadelphia, Philadelphia PA 19104., Kulkarni VV; Division of Cell Pathology, Department of Pathology and Laboratory Medicine, University of Pennsylvania-Children's Hospital of Philadelphia, Philadelphia PA 19104.; Biomedical Graduate Studies, University of Pennsylvania, Philadelphia, PA 19104., Giraudo CG; Division of Cell Pathology, Department of Pathology and Laboratory Medicine, University of Pennsylvania-Children's Hospital of Philadelphia, Philadelphia PA 19104; giraudoc@mail.med.upenn.edu.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2017 Mar 14; Vol. 114 (11), pp. E2176-E2185. Date of Electronic Publication: 2017 Mar 06.

Delivery of loaded MR1 monomer results in efficient ligand exchange to host MR1 and subsequent MR1T cell activation.

Autor: Kulicke, Corinna A.¹ (AUTHOR), Swarbrick, Gwendolyn M.² (AUTHOR), Ladd, Nicole A.³ (AUTHOR), Cansler, Meghan² (AUTHOR), Null, Megan² (AUTHOR), Worley, Aneta¹ (AUTHOR), Lemon, Chance¹ (AUTHOR), Ahmed, Tania² (AUTHOR), Bennett, Joshua² (AUTHOR), Lust, Taylor N.¹ (AUTHOR), Heisler, Chelsea M.¹ (AUTHOR), Huber, Megan E.⁴ (AUTHOR), Krawic, Jason R.⁵ (AUTHOR), Ankley, Laurisa M.⁶ (AUTHOR), McBride, Savannah K.⁴ (AUTHOR), Tafesse, Fikadu G.⁴ (AUTHOR), Olive, Andrew J.⁶ (AUTHOR), Hildebrand, William H.⁵ (AUTHOR), Lewinsohn, Deborah A.² (AUTHOR), Adams, Erin J.³ (AUTHOR)

Publikováno v: Communications Biology. 2/24/2024, Vol. 7 Issue 1, p1-13. 13p.