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Case Report

Published on 07 Aug 2025

Case Report: Late-onset primary hemophagocytic lymphohistiocytosis leading to the diagnosis of Griscelli syndrome type 2 in a young woman with phenotypically inapparent partial albinism

in Autoimmune and Autoinflammatory Disorders: Autoinflammatory Disorders

  • Johanna Rausch
  • Stephanie Herold
  • Simone Liebhäuser
  • Yagmur Bülbül
  • Edite Antunes Ferreira
  • Till Wenz
  • Kevin Jan Legscha
  • Matthias Bros
  • Florian Butsch
  • Oliver Kriege
Frontiers in Immunology
doi 10.3389/fimmu.2025.1604460
  • 2,851 views
  • 1 citation

Case Report

Published on 18 Jul 2025

Case Report: Heterozygous ADAR c.3019G>A pathogenic variant associated with variable neurological symptoms and incomplete penetrance in a four-generational family

in Autoimmune and Autoinflammatory Disorders: Autoinflammatory Disorders

  • Ann-Kathrin Bauer
  • Iris Marquardt
  • Benedikt Sundermann
  • Christine Wolf
  • Katrin Raupach
  • Kathrin Grundmann-Hauser
  • Laura Gieldon
  • Maximilian Otterbach
  • Martin Maurer
  • Tobias Haack
Frontiers in Immunology
doi 10.3389/fimmu.2025.1453496
  • 2,092 views