A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation.

Fernandez IZ#, 1, Baxter RM#, 1, Garcia-Perez JE1, Vendrame E2, Ranganath T2, Kong DS1, Lundquist K3, Nguyen T4, Ogolla S1, Black J5, Galambos C5, Gumbart JC3, Dawany N6, Kelsen JR7, de Zoeten EF4, Quinones R8, Eissa H8, Verneris MR8, Sullivan KE9, Rochford R1, Blish CA2, 10, Kedl RM##, 11, Dutmer CM##, 12, Hsieh EWY##, 13, 14.

  1. Department of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO.
  2. Department of Medicine, Stanford University School of Medicine, Stanford, CA.
  3. School of Physics, Georgia Institute of Technology, Atlanta, GA.
  4. Department of Pediatrics, Division of Gastroenterology, Hepatology and Nutrition, University of Colorado School of Medicine, Digestive Health Institute, Children's Hospital Colorado, Aurora, CO.
  5. Department of Pathology and Laboratory Medicine, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO.
  6. Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA.
  7. Department of Pediatrics, Division of Gastroenterology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  8. Department of Pediatrics, Division of Hematology/Oncology and Blood and Marrow Transplantation, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO.
  9. Department of Pediatrics, Division of Allergy and Immunology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  10. Immunology Program, School of Medicine, Stanford University, Stanford, CA.
  11. Department of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO ross.kedl@ucdenver.edu.
  12. Department of Pediatrics, Section of Allergy and Immunology, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO cullen.dutmer@childrenscolorado.org.
  13. Department of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO elena.hsieh@ucdenver.edu.
  14. Department of Pediatrics, Section of Allergy and Immunology, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO.

#Contributed equally

##Contributed equally

Presented by Isabel Fernandez and Ryan Baxter

Immunology & Microbiology, Medicine, Genetics & Genome BiologyVictoria Fang2019-06 (Jun)