2021
DOI: 10.12659/ajcr.927087
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Diagnosis of GATA2 Deficiency in a Young Woman with Hemophagocytic Lymphohistiocytosis Triggered by Acute Systemic Cytomegalovirus Infection

Abstract: Patient: Female, 22-year-old Final Diagnosis: GATA2 deficiency • hemophagocytic lymphohistiocytosis Symptoms: Chest pain • cough • fever • malaise • shortness of breath Medication: — Clinical Procedure: Bone marrow biopsy • bronchoscopy Specialty: Immunology Objective: Rare disease Background: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease characterized … Show more

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Cited by 9 publications
(9 citation statements)
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“…In GATA2 de ciency, reduced cytotoxicity of NK cells and speci c loss of CD56bright NK subpopulation have been demonstrated, which is associated with impaired differentiation of cytotoxic active NK cells [17] .GATA2 gene defects lead to a decrease in the number and activity of NK cells [17] .In this paper, 3 cases with GATA2 gene defect have observed a decrease in the activity of NK cells, which is consistent with previous reports.It is easy to speculate that the lack of NK cell number and function disrupts the immunomodulatory role of NK cells, making patients with defective GATA2 gene more susceptible to HLH. Thus, HLH may re ect not only impaired infection control, but also a genetic predisposition to excessive in ammation.Degranulation damage of cytotoxic T lymphocytes (CTL) and NK cells was detected by CD107a analysis.As previously reported, quantitative detection of CD107a on the surface of CTL is highly sensitive and speci c for the diagnosis of HLH with granular exocytosis genetic disorders [13,18,19] .In this paper, except for 1 of the 3 patients with GATA2 gene defect who did not undergo CD107a detection, the NK and CTL cell levels of ΔCD107a decreased in the other 2 patients, as shown in Table 2.Given the progression of bone marrow failure, allo-HSCT is the only treatment for GATA2 de ciency [12,20] .The only possible cure for patients with GATA2 gene de ciency combined with HLH is allo-HSCT.…”
Section: Discussionmentioning
confidence: 72%
See 1 more Smart Citation
“…In GATA2 de ciency, reduced cytotoxicity of NK cells and speci c loss of CD56bright NK subpopulation have been demonstrated, which is associated with impaired differentiation of cytotoxic active NK cells [17] .GATA2 gene defects lead to a decrease in the number and activity of NK cells [17] .In this paper, 3 cases with GATA2 gene defect have observed a decrease in the activity of NK cells, which is consistent with previous reports.It is easy to speculate that the lack of NK cell number and function disrupts the immunomodulatory role of NK cells, making patients with defective GATA2 gene more susceptible to HLH. Thus, HLH may re ect not only impaired infection control, but also a genetic predisposition to excessive in ammation.Degranulation damage of cytotoxic T lymphocytes (CTL) and NK cells was detected by CD107a analysis.As previously reported, quantitative detection of CD107a on the surface of CTL is highly sensitive and speci c for the diagnosis of HLH with granular exocytosis genetic disorders [13,18,19] .In this paper, except for 1 of the 3 patients with GATA2 gene defect who did not undergo CD107a detection, the NK and CTL cell levels of ΔCD107a decreased in the other 2 patients, as shown in Table 2.Given the progression of bone marrow failure, allo-HSCT is the only treatment for GATA2 de ciency [12,20] .The only possible cure for patients with GATA2 gene de ciency combined with HLH is allo-HSCT.…”
Section: Discussionmentioning
confidence: 72%
“…The immunophenotype of GATA2 susceptibility is most often characterized by cellular immunode ciency followed by recurrent or atypical mycobacterial, viral, and fungal infections. The patients with GATA2 de ciency syndrome combined with HLH were mostly infected with viruses and non-mycobacteria [12,13,14,15] (Table 3). In this paper, all three patients had EBV infection during the course of the disease, but different from EBV-related HLH, EBV infection mainly involved B lymphocytes, and EBV-DNA could turn negative after HLH treatment.…”
Section: Discussionmentioning
confidence: 99%
“…Therefore, our findings hold promising implications for improving clinical follow-up for patients with GATA2-related conditions, as they provide valuable insights into the mechanisms involved in maintaining HSPC homeostasis. (A) Compilation of GATA2 germline mutation cases previously reported in literature 6,8,10,12,16,[31][32][33][34][35][36] . Each dot represents a patient with alteration types color-coded.…”
Section: Discussionmentioning
confidence: 99%
“…To date, 179 different GATA2 pathogenic or likely pathogenic germline variants have been identified in patients 13 . Nonsense and frameshift coding mutations 6,8,10,12,16,[31][32][33][34][35][36] (Table S1) have been consistently reported upstream to the second zinc finger (C-ZF) (Figure 1A) leading to an haploinsufficiency 14 . In contrast, GATA2 germline missense mutations are clustered on the second C-ZF and associated with a higher risk of leukemic transformation 16,37 .…”
Section: Ectopic Expression Of Gata2 R396q Induces An Excessive Granu...mentioning
confidence: 96%
“…HLH occurs most commonly in infants and children, and some adults develop the disease may due to mutations with partial residual protein function that compensate for some immunological deficiencies ( 18 ). Most of the GATA2 deficiency patients presented with HLH in adulthood ( 11 , 12 , 15 17 ), which can be explained by partial defect in GATA2 protein function. 4 of 9 patients simultaneously experienced two zinc finger domain deletions all developed HLH after the age of 16, and were usually accompanied by rash, pancytopenia, splenomegaly and lymphadenopathy ( 7 , 12 , 16 ), further summary of clinical features requires the increase in the number of cases.…”
Section: Discussionmentioning
confidence: 99%