APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant Article

Ramirez, Lourdes, Tamayo, Wendy, Ale, Hanadys. (2020). APDS2 and SHORT Syndrome in a Teenager with PIK3R1 Pathogenic Variant . 40(7), 1020-1025. 10.1007/s10875-020-00843-1

cited authors

  • Ramirez, Lourdes; Tamayo, Wendy; Ale, Hanadys

sustainable development goals

authors

publication date

  • October 1, 2020

keywords

  • 3-KINASE DELTA SYNDROME
  • APDS
  • DIFFERENTIATION
  • HUMAN IMMUNODEFICIENCY
  • HYPER IGM SYNDROME
  • Immunology
  • Life Sciences & Biomedicine
  • MUTATIONS
  • PHOSPHOINOSITIDE 3-KINASE
  • SHORT syndrome
  • Science & Technology
  • primary immunodeficiencies

Digital Object Identifier (DOI)

publisher

  • SPRINGER/PLENUM PUBLISHERS

start page

  • 1020

end page

  • 1025

volume

  • 40

issue

  • 7