骨髓增生异常综合症（MDS）是因克隆造血起源引起的细胞减少和形态学异常所定义的疾病。它们还经常并发免疫功能失调引起的疾病，如Behçet病（BD）和继发性肺泡蛋白沉积症（sPAP）。既合并BD和sPAP的MDS极为罕见，它们的预后也很差。此外，造血转录因子基因GATA2的单等位基因缺失被认为是家族性MDS的原因，并且常常并发sPAP。在此，我们报道了一位日本女性，她患有MDS、BD和sPAP，并与GATA2缺陷相关。她在61岁进行BD治疗期间出现进行性白细胞减少和巨幼红细胞性贫血，随后进行了骨髓检查，被诊断出MDS。后来，她发展出sPAP。在63岁时，她接受了异基因造血干细胞移植（allo-HSCT）。自从进行了allo-HSCT以来，她一直保持MDS完全缓解以及BD和sPAP的症状。此外，我们进行了全外显子测序，并鉴定出GATA2 Ala164Thr的生殖系突变。这些发现表明，患有MDS、BD和sPAP的患者应考虑进行早期的allo-HSCT。 © 2023年日本血液学会。

Myelodysplastic neoplasms (MDS) are defined by cytopenia and morphologic dysplasia originating from clonal hematopoiesis. They are also frequently complicated with diseases caused by immune dysfunction, such as Behçet's disease (BD) and secondary pulmonary alveolar proteinosis (sPAP). MDS with both BD and sPAP is extremely rare, and their prognosis is poor. In addition, haploinsufficiency of the hematopoietic transcription factor gene GATA2 is recognized as a cause of familial MDS and is frequently complicated by sPAP. Herein, we report a case of MDS combined with both BD and sPAP in association with GATA2 deficiency in a Japanese woman. Because she developed progressive leukopenia and macrocytic anemia during BD treatment at the age of 61, she underwent a bone-marrow examination and was diagnosed with MDS. She subsequently developed sPAP. At the age of 63, she underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT). Since allo-HSCT, she has maintained complete remission of MDS as well as the symptoms of BD and sPAP. Furthermore, we performed whole exome sequencing and identified the GATA2 Ala164Thr germline mutation. These findings suggest that patients with MDS, BD and sPAP should be considered for early allo-HSCT.© 2023. Japanese Society of Hematology.