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Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C.
Clinical Immunology ( IF 8.6 ) Pub Date : 2019-01-07 , DOI: 10.1016/j.clim.2018.12.019
Mikael Sundin 1 , Per Marits 2 , Kim Ramme 1 , Antonios G A Kolios 3 , Jakob Nilsson 4
Affiliation  

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.

中文翻译:

儿童期出现的严重联合免疫缺陷症(SCID)与丙种球蛋白血症相关,与DCLRE1C中新的复合杂合突变有关。

严重的联合免疫缺陷症(SCID)可能由DCLRE1C中的有害突变引起,从而通过损害Artemis蛋白的功能而导致缺陷的非同源末端连接。这会损害T细胞和B细胞受体的V(D)J重组过程,并通常导致在生命的头几个月出现放射敏感性T-,B-,NK + SCID。我们提出了一个3岁女孩的案例,该女孩在DCLRE1C中出现了两个新的复合杂合变异体(c.58G> C和c.374A> C),这些变体与外周T细胞和B细胞的数量明显减少且无法检测到总血清IgG。尽管存在严重的实验室表型,该患者在其生命的最初几年(包括在幼儿园接受日托服务1.5年),尽管没有failure壮成长(-2.5至-3 SD),但身体发育正常。
更新日期:2019-01-07
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