Autoinflammatory patients with Golgi-trapped CDC42 exhibit intracellular trafficking defects leading to STING hyperactivation and ER stress.

Autor: Iannuzzo A; Université Paris Cité, CNRS, Inserm, Institut Cochin, F-75014, Paris, France., Delafontaine S; Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium.; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., El Masri R; Université Paris Cité, CNRS, Inserm, Institut Cochin, F-75014, Paris, France.; Department of Cell Physiology & Metabolism, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Tacine R; Université Paris Cité, CNRS, Inserm, Institut Cochin, F-75014, Paris, France., Prencipe G; Laboratory of Immuno-Rheumatology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Nishitani-Isa M; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., van Wijck RTA; Department of Pathology & Clinical Bioinformatics, Erasmus University Medical Center, Rotterdam, The Netherlands., Bhuyan F; Translational Autoinflammatory Disease Section (TADS), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health, Bethesda, MD, 20892, USA., de Jesus Rasheed AA; Translational Autoinflammatory Disease Section (TADS), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health, Bethesda, MD, 20892, USA., Coppola S; National Center for Rare Diseases, Istituto Superiore di Sanità, 00161, Rome, Italy., van Daele PLA; Department of Internal Medicine, Division of Allergy & Clinical Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands.; Department of Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands., Insalaco A; Division of Rheumatology, ERN RITA Center, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy., Goldbach-Mansky R; Translational Autoinflammatory Disease Section (TADS), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health, Bethesda, MD, 20892, USA., Yasumi T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy., Meyts I; Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium.; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium., Delon J; Université Paris Cité, CNRS, Inserm, Institut Cochin, F-75014, Paris, France. jerome.delon@inserm.fr.

Publikováno v: Nature communications [Nat Commun] 2024 Nov 16; Vol. 15 (1), pp. 9940. Date of Electronic Publication: 2024 Nov 16.

Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene.

Autor: Varea I; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Joseph B; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Emmerich K; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Manohar-Sindhu S; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Zou J; Induced Pluripotent Stem Cells (iPSC) Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Friend K; Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Tang X; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Yang D; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., de Jesus Rasheed AA; Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Goldbach-Mansky R; Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA., Boehm M; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: boehmm@nhlbi.nih.gov.

Publikováno v: Stem cell research [Stem Cell Res] 2024 Oct; Vol. 80, pp. 103517. Date of Electronic Publication: 2024 Jul 30.

Human induced pluripotent stem cells generated from STING-associated vasculopathy with onset in infancy (SAVI) patients with a heterozygous mutation in the STING gene.

Autor: Mehta A; Laboratory of Cardiovascular Regenerative Medicine, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Yu Q; Laboratory of Cardiovascular Regenerative Medicine, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Liu Y; Laboratory of Cardiovascular Regenerative Medicine, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA; Department of Rheumatology and Immunology, Xiangya Hospital, Central South University, Changsha 410000, China., Yang D; Laboratory of Cardiovascular Regenerative Medicine, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Zou J; Department of Rheumatology and Immunology, Xiangya Hospital, Central South University, Changsha 410000, China., Beers J; Department of Rheumatology and Immunology, Xiangya Hospital, Central South University, Changsha 410000, China., de Jesus Rasheed AA; iPSC Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Rastegar AT; Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health, Bethesda, MD 20892, USA., Goldbach-Mansky R; iPSC Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Boehm M; Laboratory of Cardiovascular Regenerative Medicine, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: boehmm@nhlbi.nih.gov., Chen G; Laboratory of Cardiovascular Regenerative Medicine, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Publikováno v: Stem cell research [Stem Cell Res] 2022 Dec; Vol. 65, pp. 102974. Date of Electronic Publication: 2022 Nov 14.

Human induced pluripotent stem cells generated from Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome patients with a homozygous mutation in the PSMB8 gene (NIHTVBi016-A, NIHTVBi017-A, NIHTVBi018-A).

Autor: Yu Q; Laboratory of Cardiovascular Regenerative Medicine, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Mehta A; Laboratory of Cardiovascular Regenerative Medicine, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Zou J; iPSC Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Beers J; iPSC Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., de Jesus Rasheed AA; Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health, Bethesda, MD 20892, USA., Goldbach-Mansky R; Translational Autoinflammatory Diseases Section (TADS), National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health, Bethesda, MD 20892, USA., Boehm M; Laboratory of Cardiovascular Regenerative Medicine, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA., Chen G; Laboratory of Cardiovascular Regenerative Medicine, Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Publikováno v: Stem cell research [Stem Cell Res] 2022 Jul; Vol. 62, pp. 102820. Date of Electronic Publication: 2022 May 25.