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Updated: Jul 14, 2025

Inducing Apical Periodontitis in Mice
Published on: August 6, 2019
Extensive dental caries and periodontal disease in a child with GATA2 deficiency
Filippo Consonni1,2, Eleonora Gambineri2,3, Marinella Veltroni2
1MD. Department of Health Sciences, University of Florence, Florence, Italy.
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. Key words:GATA2 deficiency, Inborn errors of immunity, teeth, dental decay, multidisciplinary approach.
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