Department of Pediatrics, Affiliated Hospital of Zunyi Medical University, No. 143 Dalian Road, Zunyi, 563003, China.
Department of Pediatrics, Guizhou Children's Hospital, Guizhou, 563003, Zunyi, China.
BMC Pediatr. 2023 May 13;23(1):239. doi: 10.1186/s12887-023-04054-6.
D40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis has rarely been reported, and its genotype-phenotypic correlation remains elusive.
We describe a five-month-old boy with CD40LG mutation (c.516T > A, p.Tyr172Ter) X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis as the first manifestation. The patient completely recovered after immunotherapy and allogeneic hematopoietic stem cell transplantation. In addition, four previously reported patients with CD40LG mutation with pulmonary alveolar proteinosis were also analyzed. All of these patients presented with early onset of pulmonary infections and a good response to immunotherapy. The structural model of CD40LG indicated that all mutations caused the X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis to be located within the tumor necrosis factor homology domain.
A case was presented, and the characteristics of four cases of CD40LG-associated X-linked hyper-IgM syndrome with pulmonary alveolar proteinosis were summarized. The variant locations may explain the phenotypic heterogeneity of patients with the CD40LG mutation.
D40LG 相关的 X 连锁高免疫球蛋白 M 综合征伴肺泡蛋白沉积症很少见，其基因型-表型相关性仍不清楚。
我们描述了一例五个月大的男性患儿，存在 CD40LG 突变（c.516T>C，p.Tyr172Ter），X 连锁高免疫球蛋白 M 综合征伴肺泡蛋白沉积症为首发表现。患者经免疫治疗和异基因造血干细胞移植后完全康复。此外，还分析了另外四例先前报道的 CD40LG 突变伴肺泡蛋白沉积症的患者。所有这些患者均表现为肺部感染早期发病，对免疫治疗反应良好。CD40LG 的结构模型表明，所有突变均导致 X 连锁高免疫球蛋白 M 综合征伴肺泡蛋白沉积症位于肿瘤坏死因子同源结构域内。
提出了一个病例，并总结了四例 CD40LG 相关的 X 连锁高免疫球蛋白 M 综合征伴肺泡蛋白沉积症的特征。变异位置可能解释了 CD40LG 突变患者的表型异质性。
