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

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...

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Published inFrontiers in immunology Vol. 12
Main Authors Mika, Thomas, Vangala, Deepak, Eckhardt, Matthias, La Rosée, Paul, Lange, Christoph, Lehmberg, Kai, Wohlschläger, Charlotte, Biskup, Saskia, Fuchs, Ilka, Mann, Jasmin, Ehl, Stephan, Warnatz, Klaus, Schroers, Roland
Format Journal Article
LanguageEnglish
Published Frontiers Media S.A 10.05.2021
Subjects
allogeneic hematopoietic stem cell transplantation
CD107a
GATA2
hemophagocytic lymphohistiocytosis
Immunology
non-tuberculous mycobacteriosis
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Summary: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.
Bibliography:Reviewed by: Anastasios E. Germenis, University of Thessaly, Greece; Alexandra Freeman, National Institutes of Health (NIH), United States
Edited by: Catharina Schuetz, University Hospital Carl Gustav Carus, Germany
This article was submitted to Primary Immunodeficiencies, a section of the journal Frontiers in Immunology
ISSN:1664-3224
1664-3224
DOI:10.3389/fimmu.2021.682934