Case Report: Hemophagocytic lymphohistiocytosis and non-tuberculous mycobacteriosis caused by a novel \(\it GATA2\) 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 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.
| Author: | Thomas MikaORCiDGND, Deepak VangalaORCiDGND, Matthias EckhardtGND, Paul La RoséeGND, Christoph LangeGND, Kai LehmbergGND, Charlotte WohlschlägerGND, Saskia BiskupGND, Ilka FuchsGND, Jasmin MannGND, Stephan EhlGND, Klaus WarnatzGND, Roland SchroersORCiDGND |
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| URN: | urn:nbn:de:hbz:294-87319 |
| DOI: | https://doi.org/10.3389/fimmu.2021.682934 |
| Parent Title (English): | Frontiers in immunology |
| Publisher: | Frontiers |
| Place of publication: | Lausanne |
| Document Type: | Article |
| Language: | English |
| Date of Publication (online): | 2022/03/17 |
| Date of first Publication: | 2021/05/10 |
| Publishing Institution: | Ruhr-Universität Bochum, Universitätsbibliothek |
| Tag: | Open Access Fonds CD107a; GATA2; allogeneic hematopoietic stem cell transplantation; hemophagocytic lymphohistiocytosis; non-tuberculous mycobacteriosis |
| Volume: | 12 |
| Issue: | Artikel 682934 |
| First Page: | 682934-1 |
| Last Page: | 682934-6 |
| Note: | Article Processing Charge funded by the Open Access Publication Fund of Ruhr-Universität Bochum. |
| Institutes/Facilities: | Knappschaftskrankenhaus Bochum, Medizinische Klinik, Hämatologie / Onkologie |
| Dewey Decimal Classification: | Technik, Medizin, angewandte Wissenschaften / Medizin, Gesundheit |
| open_access (DINI-Set): | open_access |
| Licence (German): |  Creative Commons - CC BY 4.0 - Namensnennung 4.0 International |
