PMC10482092_01
(A) Chest CT showing enlarged mediastinal lymph nodes (yellow arrow) and PET/CT with hypermetabolic mediastinal lymph nodes (red arrow). (B)Pedigree chart of the patient. (C) Trends in red blood cells (RBC), white blood cells (WBC), platelet count (PLT) levels and treatments during the patient's hospital stay. (D) Changes in ferritin (Fer) and lactate dehydrogenase (LDH) during the hospitalization. (E)
GATA2 variants sites of two GATA2 deficiency-related HLH patients in our center (Protter, ). Heatmap (F) and volcano plot (G) for differentially expressed genes identified comparing patient and healthy controls (HCs) (volcano plot was performed using the OmicStudio tools at ). (H) The comparisons of plasma levels of inflammatory cytokines between the patient and HCs. **P <= 0.01; *P <= 0.05.
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Multiple lesions in the bilateral lung fields and multiple hypermetabolic lymphadenopathies in the hilum, mediastinum, and supraclavicular area and enlarged spleen were found by CT and PET/CT (Figure 1A). He had no relevant family history. He had the heterozygous nonsense variant of the GATA2 gene c.599dupG, p.S201*. His father and sister carried the wild type of the GATA2 gene, and his mother died in an accident (Figure 1B). Therapies, changes of his complete blood count, ferritin and lactate dehydrogenase during the hospitalization were shown in Figures 1C, D.