The Pediatric Hematology, Immunology and HCT Section, Astrid Lindgren Children's Hospital, Stockholm, Sweden.
Department of Clinical Immunology, Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden.
Clin Immunol. 2019 Mar;200:16-18. doi: 10.1016/j.clim.2018.12.019. Epub 2019 Jan 7.
Severe combined immunodeficiency (SCID) can be caused by deleterious mutations in DCLRE1C, leading to deficient non-homologous end joining by compromising the function of the Artemis protein. This impairs the process of V(D)J recombination of the T- and B-cell receptors and typically results in radiosensitive T, B, NK SCID presenting during the first months of life. We present a case of a 3-year-old girl with two novel compound heterozygous variants in DCLRE1C (c.58G>C and c.374A>C) that were associated with marked reduced numbers of peripheral T- and B-cells and undetectable total serum IgG. Despite the severe laboratory phenotype, the patient had a normal development, albeit failure to thrive (-2.5 to -3 SD), during her first years of life including day-care attendance at preschool for 1.5 years. After being diagnosed with pneumonia the clinical picture of SCID was recognized and the girl successfully underwent hematopoietic stem-cell transplantation.
严重联合免疫缺陷症（SCID）可由 DCLRE1C 的有害突变引起，通过损害 Artemis 蛋白的功能导致非同源末端连接不足。这会损害 T 和 B 细胞受体的 V(D)J 重组过程，通常导致在生命的头几个月表现出对射线敏感的 T、B、NK SCID。我们报告了一例 3 岁女孩，她在 DCLRE1C 中存在两个新的复合杂合变体（c.58G>C 和 c.374A>C），这与外周 T 和 B 细胞数量明显减少以及总血清 IgG 无法检测到有关。尽管存在严重的实验室表型，但患者在生命的头几年包括在学前班接受了 1.5 年的日托，发育正常，尽管生长不良（-2.5 至-3 SD）。在被诊断为肺炎后，SCID 的临床特征得到了认识，女孩成功地接受了造血干细胞移植。
