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Case Report: Missing Zinc Finger Domains: Hemophagocytic Lymphohistiocytosis in a GATA2 Deficiency Patient Triggered by Non-tuberculous Mycobacteriosis

Overview
Journal Front Immunol
Date 2023 Sep 8
PMID 37680631
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Abstract

Haploinsufficiency of GATA2, also known as GATA2 deficiency, leads to a wide spectrum of clinical manifestations. Here we described another 28-year-old man with a GATA2 variant who also suffered from hemophagocytic lymphohistiocytosis(HLH), who was finally diagnosed with HLH triggered by bloodstream infection due to primary immunodeficiency. We reviewed GATA2 deficiency patients with HLH and found that GATA2 variants causing loss of zinc finger domains were associated with HLH, and erythema nodosa might be an accompanying symptom.

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GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.

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PMID: 39497062 PMC: 11536883. DOI: 10.1186/s12879-024-10145-1.

References
1.
Mika T, Vangala D, Eckhardt M, La Rosee P, Lange C, Lehmberg K . Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel Variant. Front Immunol. 2021; 12:682934. PMC: 8143047. DOI: 10.3389/fimmu.2021.682934. View

2.
McReynolds L, Calvo K, Holland S . Germline GATA2 Mutation and Bone Marrow Failure. Hematol Oncol Clin North Am. 2018; 32(4):713-728. PMC: 6128284. DOI: 10.1016/j.hoc.2018.04.004. View

3.
Burak N, Jan N, Kessler J, Oei E, Patel P, Feldman S . Diagnosis of GATA2 Deficiency in a Young Woman with Hemophagocytic Lymphohistiocytosis Triggered by Acute Systemic Cytomegalovirus Infection. Am J Case Rep. 2021; 22:e927087. PMC: 7959100. DOI: 10.12659/AJCR.927087. View

4.
Sun L, Xu N, Shen M, Wang R, Sun Y, Zhuang J . GATA2 mutation with recurrent haemophagocytic lymphohistiocytosis and panniculitis: a case report. Rheumatology (Oxford). 2021; 60(7):e229-e231. DOI: 10.1093/rheumatology/keaa913. View

5.
Steen E, Hermiston M, Nichols K, Meyer L . Digenic Inheritance: Evidence and Gaps in Hemophagocytic Lymphohistiocytosis. Front Immunol. 2021; 12:777851. PMC: 8635482. DOI: 10.3389/fimmu.2021.777851. View