Background: Specific granule deficiency (SGD) is a rare immunodeficiency associated with CCAT/enhancer-binding protein epsilon (CEBPE) gene variants. It can cause severe recurrent infections and is lethal without successful stem cell transplantation. Few cases with SGD of both type 1 and type 2 have been described in the literature. In this study, we present the first report of a case with a novel homozygous c.511 C > T (p.Gln171Ter) mutation in the SMARCD2 gene of SGD type 2, which was successfully treated with bone marrow transplantation.

中文翻译：

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新型纯合子 SMARCD2 变体导致的特定颗粒缺乏

背景：特异性颗粒缺乏症 (SGD) 是一种罕见的与CCAT/增强子结合蛋白ε (CEBPE)基因变异相关的免疫缺陷。它会导致严重的复发性感染，并且如果没有成功的干细胞移植是致命的。文献中描述了很少有 1 型和 2 型 SGD 病例。在这项研究中，我们首次报道了SGD 2 型SMARCD2基因中具有新型纯合c.511 C > T (p.Gln171Ter)突变的通过骨髓移植成功治疗。