F
Fabio Candotti
Researcher at National Institutes of Health
Publications - 170
Citations - 10647
Fabio Candotti is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Genetic enhancement & Severe combined immunodeficiency. The author has an hindex of 49, co-authored 153 publications receiving 9507 citations. Previous affiliations of Fabio Candotti include RMIT University & University Hospital of Lausanne.
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Journal ArticleDOI
Activated STING in a Vascular and Pulmonary Syndrome
Yongmei Liu,A Almeida de Jesus,B Marrero,Dan Yang,Suzanne E. Ramsey,Suzanne E. Ramsey,G.A. Montealegre Sanchez,Klaus Tenbrock,Klaus Tenbrock,Helmut Wittkowski,Helmut Wittkowski,Olcay Y. Jones,Olcay Y. Jones,Hye Sun Kuehn,Chyi-Chia Richard Lee,Michael A. DiMattia,Edward W. Cowen,Benito Gonzalez,Ira Palmer,J.J. DiGiovanna,Angelique Biancotto,H. Kim,Wanxia L. Tsai,Anna M. Trier,Yhu Chering Huang,Deborah L. Stone,S Hill,Hanna Kim,C. St. Hilaire,Shakuntala Gurprasad,Nicole Plass,D. Chapelle,Iren Horkayne-Szakaly,Iren Horkayne-Szakaly,Dirk Foell,Dirk Foell,Andrei Barysenka,Andrei Barysenka,Fabio Candotti,Steven M. Holland,Jason D. Hughes,Jason D. Hughes,Huseyin Mehmet,Huseyin Mehmet,Andrew C. Issekutz,Andrew C. Issekutz,Mark Raffeld,Joshua J McElwee,Joshua J McElwee,Joseph R. Fontana,Caterina P. Minniti,Susan Moir,Daniel L. Kastner,Massimo Gadina,A.C. Steven,Paul T. Wingfield,Stephen R. Brooks,Sofia Rosenzweig,Thomas A. Fleisher,Zuoming Deng,Manfred Boehm,Amy S. Paller,Amy S. Paller,Raphaela Goldbach-Mansky +63 more
TL;DR: STING-associated vasculopathy with onset in infancy (SAVI) is an autoinflammatory disease caused by gain-of-function mutations in TMEM173, the stimulator of interferon genes (STING), andConstitutive up-regulation of phosphorylated STAT1 in patients' lymphocytes was reduced by JAK inhibitors.
Journal ArticleDOI
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).
Paolo Macchi,Anna Villa,Silvia Giliani,Maria Grazia Sacco,Annalisa Frattini,Fulvio Porta,A. G. Ugazio,J A Johnston,Fabio Candotti,John J. O'Shea +9 more
TL;DR: Two unrelated T- B+SCID patients who have homozygous mutations in the gene for Jak-3 are investigated and abnormalities in the Jak/STAT signalling pathway can account for SCID in humans.
Journal ArticleDOI
Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
Michael R. Wilson,Samia N. Naccache,Erik Samayoa,Mark Biagtan,Hiba Bashir,Guixia Yu,Shahriar M. Salamat,Sneha Somasekar,Scot Federman,Steve Miller,Robert A. Sokolic,Elizabeth Garabedian,Fabio Candotti,Rebecca H. Buckley,Kurt D. Reed,Teresa L. Meyer,Christine M. Seroogy,Renee Galloway,Sheryl L Henderson,James E. Gern,Joseph L. DeRisi,Charles Y. Chiu +21 more
TL;DR: A 14-year-old boy with severe combined immunodeficiency presented three times to a medical facility over a period of 4 months with fever and headache that progressed to hydrocephalus and status epilepticus necessitating a medically induced coma, confirming evidence of Leptospira santarosai infection.
Journal ArticleDOI
Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
Qing Zhou,Dan Yang,Amanda K. Ombrello,Andrey Zavialov,Camilo Toro,Anton V. Zavialov,Deborah L. Stone,Jae Jin Chae,Sergio D. Rosenzweig,Kevin Bishop,Karyl S. Barron,Hye Sun Kuehn,Patrycja Hoffmann,Alejandra Negro,Wanxia L. Tsai,Edward W. Cowen,Wuhong Pei,Joshua D. Milner,Christopher Silvin,Theo Heller,David T. Chin,Nicholas J. Patronas,John S. Barber,Chyi-Chia Richard Lee,Geryl Wood,Alexander Ling,Susan J. Kelly,David E. Kleiner,James C. Mullikin,Nancy J. Ganson,Heidi H. Kong,Sophie Hambleton,Fabio Candotti,Martha Quezado,Katherine R. Calvo,Hawwa Alao,Beverly K. Barham,Anne Jones,James F. Meschia,Bradford B. Worrall,Scott E. Kasner,Stephen S. Rich,Raphaela Goldbach-Mansky,Mario Abinun,Elizabeth Chalom,Alisa Gotte,Marilynn Punaro,Virginia Pascual,James W. Verbsky,Troy R. Torgerson,Nora G. Singer,Timothy R. Gershon,Seza Ozen,Omer Karadag,Thomas A. Fleisher,Elaine F. Remmers,Shawn M. Burgess,Susan Moir,Massimo Gadina,Raman Sood,Michael S. Hershfield,Manfred Boehm,Daniel L. Kastner,Ivona Aksentijevich +63 more
TL;DR: Loss-of-function mutations in CECR1 were associated with a spectrum of vascular and inflammatory phenotypes, ranging from early-onset recurrent stroke to systemic vasculopathy or vasculitis, and were prevented by coinjection with nonmutated (but not with mutated) human C ECR1.
Journal ArticleDOI
Engraftment potential of human amnion and chorion cells derived from term placenta
Marco Bailo,Maddalena Soncini,Elsa Vertua,Patrizia Bonassi Signoroni,Silvia Sanzone,Guerino Lombardi,Davide Arienti,Francesca Calamani,Daniela Zatti,Petra Paul,Alberto Albertini,Fausto Zorzi,Angelo Cavagnini,Fabio Candotti,Georg S. Wengler,Ornella Parolini +15 more
TL;DR: Human amnion and chorion cells from term placenta can successfully engraft neonatal swine and rats and are suggested to represent an advantageous source of progenitor cells with potential applications in a variety of cell therapy and transplantation procedures.