Background: GATA2 deficiency is an inborn error of immunity (IEI) characterized by infectious susceptibility and increased risk of myelodysplasia leading to acute myeloid leukaemia (AML). Oral anomalies already described in this disorder include recurrent viral and fungal infections and oral ulcers.
Material And Methods: We report a 9-year-old girl presenting with AML with myelodysplasia-related changes, monosomy 7 karyotype on marrow aspirate, numerous flat warts on her hands and multiple dental caries at oral cavity inspection. Dental evaluation and genetic testing (Sanger sequencing) for GATA2 were carried out considering the peculiar clinical presentation.
Results: Dental evaluation showed extensive caries and periodontal disease, while genetic studies revealed a known c.1009 C>T (p.Arg337X) mutation in GATA2. After multidisciplinary discussion, affected teeth were extracted before chemotherapy, in general anaesthesia, together with scaling and root planning of the alveolar sockets. Subsequently, the patient underwent hematopoietic stem cell transplantation (HSCT) from her HLA-matched GATA2 wild-type sibling, who did not bear any dental anomalies. No dento-alveolar infections were encountered during post-chemotherapy aplasia.
Conclusions: This case first describes the association between GATA2 deficiency and extensive dental caries with periodontal disease, highlighting the importance of an early dental evaluation and intervention in children with leukaemia. GATA2 deficiency, Inborn errors of immunity, teeth, dental decay, multidisciplinary approach.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10550079 | PMC |
| http://dx.doi.org/10.4317/jced.60345 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Modeling GATA2 deficiency in mice: the R396Q mutation disrupts normal hematopoiesis.
Leukemia
January 2025
Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN, USA.
GATA2 deficiency is an autosomal dominant germline disorder of immune dysfunction and bone marrow failure with a high propensity for leukemic transformation. While sequencing studies have identified several secondary mutations thought to contribute to malignancy, the mechanisms of disease progression have been difficult to identify due to a lack of disease-specific experimental models. Here, we describe a murine model of one of the most common GATA2 mutations associated with leukemic progression in GATA2 deficiency, Gata2.
View Article and Find Full Text PDFGATA2 participates in protection against hypoxia-induced pulmonary vascular remodeling.
PLoS One
December 2024
Division of Medical Biochemistry, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
The vascular endothelium is vital for cardio-pulmonary homeostasis and, thus, plays a crucial role in preventing life-threatening lung diseases. The transcription factor GATA2 is essential for hematopoiesis and maintaining vascular integrity. Heterozygous mutations in GATA2 can lead to a primary immunodeficiency syndrome with pulmonary manifestations.
View Article and Find Full Text PDFRare Case of Germline GATA2-Deficiency With Merkel Cell Carcinoma and Acute Myeloid Leukemia.
Cancer Rep (Hoboken)
December 2024
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Background: Germline GATA2-deficiency usually manifests as immunodeficiencies and myeloid neoplasms and sometimes with dermatological diseases, including warts, panniculitis, and skin cancers.
Case: We report a 36-year-old woman with germline GATA2-deficiency who developed Merkel cell carcinoma followed by acute myeloid leukemia. Molecular analysis revealed a germline GATA2 S447R variant, not reported from the previous reported case, suggesting a potential association with Merkel cell carcinoma.
GSDMD Mediates Ang II-Induced Hypertensive Nephropathy by Regulating the GATA2/AQP4 Signaling Pathway.
J Inflamm Res
November 2024
The Key Laboratory of Cardiovascular Disease of Wenzhou, Department of Cardiology, the First Affiliated Hospital of Wenzhou Medical University, Zhejiang, People's Republic of China.
Aim: Hypertensive nephropathy is a common complication of hypertension. However, no effective measures are currently available to prevent the progression of renal insufficiency. Gasdermin D (GSDMD) is a crucial mediator of pyroptosis that induces an excessive inflammatory response.
View Article and Find Full Text PDFGATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.
BMC Infect Dis
November 2024
Sina Trauma and Surgery Research Center, Kerman University of Medical Sciences, Kerman, Iran.
Article Synopsis
- GATA2 deficiency is an autosomal dominant condition that increases the risk of severe infections and can lead to hemophagocytic lymphohistiocytosis (HLH), prompting a review of case studies linking the two.
- The systematic review analyzed 15 studies published between 2016 and 2024, including data from 23 patients aged 7 to 57, revealing various genetic mutations and infections contributing to HLH.
- Out of 8 patients who underwent hematopoietic stem cell transplantation (HSCT) for this condition, 6 survived while 2 did not, indicating some potential for successful treatment despite the severity of the disease.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!