Case Report
Standard
Case Report : Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant. / 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.
In: FRONT IMMUNOL, Vol. 12, 682934, 2021.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Case Report
T2 - Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant
AU - Mika, Thomas
AU - Vangala, Deepak
AU - Eckhardt, Matthias
AU - La Rosée, Paul
AU - Lange, Christoph
AU - Lehmberg, Kai
AU - Wohlschläger, Charlotte
AU - Biskup, Saskia
AU - Fuchs, Ilka
AU - Mann, Jasmin
AU - Ehl, Stephan
AU - Warnatz, Klaus
AU - Schroers, Roland
N1 - Copyright © 2021 Mika, Vangala, Eckhardt, La Rosée, Lange, Lehmberg, Wohlschläger, Biskup, Fuchs, Mann, Ehl, Warnatz and Schroers.
PY - 2021
Y1 - 2021
N2 - 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.
AB - 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.
KW - Biomarkers
KW - Disease Management
KW - Female
KW - GATA2 Transcription Factor/genetics
KW - Genetic Association Studies
KW - Genetic Predisposition to Disease
KW - Genetic Variation
KW - Hematopoietic Stem Cell Transplantation
KW - Humans
KW - Immunophenotyping
KW - Killer Cells, Natural/immunology
KW - Lymphohistiocytosis, Hemophagocytic/diagnosis
KW - Male
KW - Mycobacterium Infections, Nontuberculous/diagnosis
KW - Positron Emission Tomography Computed Tomography
KW - Treatment Outcome
U2 - 10.3389/fimmu.2021.682934
DO - 10.3389/fimmu.2021.682934
M3 - SCORING: Journal article
C2 - 34040617
VL - 12
JO - FRONT IMMUNOL
JF - FRONT IMMUNOL
SN - 1664-3224
M1 - 682934
ER -
