Varaico: Literature-Extracted Genetic Variants

Gene:GATA2
Variant:p.E391_G392delFs
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GATA2

NM_032638.5:p.E391_G392delFs

Associated Papers

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

Rukerd MRZ et al.

Bmc Infectious Diseases, 2024

Haemophagocytic lymphohistiocytosis caused by GATA2 deficiency: a report on three patients.

Wu L et al.

Bmc Infectious Diseases, 2024

Case Report: Missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis.

Huang X et al.

Frontiers in Immunology, 2023

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

Myeloid malignancies with somatic GATA2 mutations can be associated with an immunodeficiency phenotype.

Alfayez M et al.

Leukemia & Lymphoma, 2019

Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes.

Prader S et al.

Frontiers in Immunology, 2018

Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).

DiNardo CD et al.

Clinical Lymphoma, Myeloma & Leukemia, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."