Case report: the cardio-facio-cutaneous syndrome due to a novel germline mutation in map2k1: a multifaceted disease with immunodeficiency and short stature

HIGHLIGHTS

  • who: Aleksandra Szczawiu0144ska-Popu0142onyk and colleagues from the (UNIVERSITY) have published the research work: Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature, in the Journal: (JOURNAL)
  • what: The authors report on a case of a boy who was referred to the pediatric clinical hospital at the age of two years due to recurrent respiratory tract infections for immunodiagnostics.
  • how: With sequential gating on biparametric scattering CD45 + CD14- lymphocytes the following lymphocyte subpopulations were identified
  • future: Functional . . .

     

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