低表达突变：外显子8中一个新的致病突变的鉴定及文献综述
hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature.
作者信息
Lim Che Kang, Abolhassani Hassan, Appelberg Sofia K, Sundin Mikael, Hammarström Lennart
机构信息
1Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.
2Department of Clinical Translational Research, Singapore General Hospital, Singapore, Singapore.
出版信息
Allergy Asthma Clin Immunol. 2019 Jan 5;15:2. doi: 10.1186/s13223-018-0317-y. eCollection 2019.
BACKGROUND
Atypical X-linked severe combined immunodeficiency (X-SCID) is a variant of cellular immunodeficiency due to hypomorphic mutations in the interleukin 2 receptor gamma () gene. Due to a leaky clinical phenotype, diagnosis and appropriate treatment are challenging in these patients.
CASE PRESENTATION
We report a 16-year-old patient with a T B NK cellular immunodeficiency due to a novel nonsense mutation in exon 8 (p.R328X) of the gene. Functional impairment of the was confirmed by IL2-Janus kinase 3-signal transducer and activator of transcription signaling pathway investigation. In addition, the characteristics of the mutations previously described in 39 patients with an atypical phenotype were reviewed and analyzed from the literature.
CONCLUSION
This is the first report of an atypical X-SCID phenotype due to an exon 8 mutation in the gene. The variability in the phenotypic spectrum of classic X-SCID associated gene highlights the necessity of multi-disciplinary cooperation vigilance for a more accurate diagnostic workup.
背景
非典型X连锁重症联合免疫缺陷（X-SCID）是一种细胞免疫缺陷变异型，由白细胞介素2受体γ（IL2Rγ）基因的亚效突变引起。由于临床表型不典型，这些患者的诊断和恰当治疗具有挑战性。
病例报告
我们报告一名16岁患者，因IL2Rγ基因第8外显子的一个新的无义突变（p.R328X）导致T⁻B⁻NK⁺细胞免疫缺陷。通过IL2- Janus激酶3-信号转导及转录激活因子信号通路研究证实了IL2Rγ的功能受损。此外，从文献中回顾并分析了先前报道的39例非典型表型患者的突变特征。
结论
这是首例因IL2Rγ基因第8外显子突变导致非典型X-SCID表型的报告。经典X-SCID相关基因表型谱的变异性凸显了多学科合作警惕性对于更准确诊断检查的必要性。
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