Consonni Filippo, Gambineri Eleonora, Veltroni Marinella, Callea Michele
MD. Department of Health Sciences, University of Florence, Florence, Italy.
MD. Centre of Excellence, Division of Paediatric Oncology/Haematology, Meyer Children's Hospital IRCCS, Florence, Italy.
J Clin Exp Dent. 2023 Sep 1;15(9):e787-e790. doi: 10.4317/jced.60345. eCollection 2023 Sep.
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.
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.
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.
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.
GATA2缺乏是一种先天性免疫缺陷（IEI），其特征为易感染以及骨髓发育异常导致急性髓系白血病（AML）的风险增加。该疾病中已描述的口腔异常包括反复的病毒和真菌感染以及口腔溃疡。
我们报告一名9岁女孩，患有伴有骨髓发育异常相关改变的AML，骨髓穿刺显示7号染色体单体核型，手部有许多扁平疣，口腔检查发现多处龋齿。鉴于其特殊的临床表现，对其进行了牙科评估和GATA2基因检测（桑格测序）。
牙科评估显示广泛的龋齿和牙周疾病，而基因研究发现GATA2存在已知的c.1009 C>T（p.Arg337X）突变。经过多学科讨论，在全身麻醉下化疗前拔除了患牙，并对牙槽窝进行了刮治和根面平整。随后，患者接受了来自与其HLA匹配的GATA2野生型同胞的造血干细胞移植（HSCT），该同胞没有任何牙齿异常。化疗后再生障碍期间未发生牙槽感染。
本病例首次描述了GATA2缺乏与广泛龋齿和牙周疾病之间的关联，强调了对白血病患儿进行早期牙科评估和干预的重要性。GATA2缺乏、先天性免疫缺陷症、牙齿、龋齿、多学科方法。
