Frontiers in Immunology (May 2021)

Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant

  • Thomas Mika,
  • Deepak Vangala,
  • Matthias Eckhardt,
  • Paul La Rosée,
  • Christoph Lange,
  • Christoph Lange,
  • Kai Lehmberg,
  • Charlotte Wohlschläger,
  • Saskia Biskup,
  • Ilka Fuchs,
  • Jasmin Mann,
  • Stephan Ehl,
  • Klaus Warnatz,
  • Klaus Warnatz,
  • Roland Schroers

DOI
https://doi.org/10.3389/fimmu.2021.682934
Journal volume & issue
Vol. 12

Abstract

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Hemophagocytic lymphohistiocytosis (HLH) is a disorder of uncontrolled immune activation with distinct clinical features including fever, cytopenia, splenomegaly, and sepsis-like symptoms. In a young adolescent patient a novel germline GATA2 variant (NM_032638.5 (GATA2): c.177C>G, p.Tyr59Ter) was discovered and had resulted in non-tuberculous mycobacterial (NTM) infection and aggressive HLH. Strikingly, impaired degranulation of cytotoxic T-lymphocytes (CTL) and natural killer (NK)-cells was detected in CD107a-analyses. The affected patient was treated with HLA-matched unrelated alloHSCT, and subsequently all hematologic and infectious abnormalities including HLH and NTM resolved. This case supports early alloHSCT in GATA2 deficiencies as curative approach regardless of active NTM infection. Future studies on GATA2 c.177C>G, p.Tyr59*Ter might unravel its potential role in cytotoxic effector cell function and its contribution to HLH pathogenesis.

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