Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans

  • Cyrill Schipp
  • , Schafiq Nabhani
  • , Kirsten Bienemann
  • , Natalia Simanovsky
  • , Shlomit Kfir-Erenfeld
  • , Nathalie Assayag-Asherie
  • , Prasad T. Oommen
  • , Shoshana Revel-Vilk
  • , Andrea Hönscheid
  • , Michael Gombert
  • , Sebastian Ginzel
  • , Daniel Schäfer
  • , Hans Jürgen Laws
  • , Eitan Yefenof
  • , Bernhard Fleckenstein
  • , Arndt Borkhardt
  • , Polina Stepensky
  • , Ute Fischer*
  • *Corresponding author for this work

Research output: Contribution to journalLetterpeer-review

39 Scopus citations
Original languageEnglish
Pages (from-to)e392-e396
JournalHaematologica
Volume101
Issue number10
DOIs
StatePublished - 30 Sep 2016

Keywords

  • Antibody deficiency
  • Autoimmune lymphoproliferative syndrome
  • Autoinflammatory disease
  • Fas
  • Immunodeficiency
  • NFKB

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