@article{SchnappaufWangAksentijevichetal.2025,
  author    = {Schnappauf, Oskar and Wang, Hongying and Aksentijevich, Ivona and Kastner, Daniel L. and Laxer, Ronald M.},
  title     = {A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Gouti{\`e}res syndrome},
  journal   = {Journal of Allergy and Clinical Immunology: Global},
  volume    = {4},
  number    = {2},
  issn      = {2772-8293},
  doi       = {10.1016/j.jacig.2025.100400},
  institution = {Fachbereich Angewandte Naturwissenschaften},
  pages     = {100400},
  year      = {2025},
  abstract  = {The critical need for awareness and genetic testing of the SAMHD1 deletion in Ashkenazi Jewish patients is highlighted owing to its relatively high carrier frequency. Early detection can prevent severe disease complications through targeted therapy.},
  language  = {en}
}