Cutaneous Granulomatosis and Class Switching Defect as a Presenting Sign in Ataxia-Telangiectasia: First Case from the National Iranian Registry and Review of the Literature.
第一作者:
Parisa,Amirifar
第一单位:
Medical genetics department, School of Medicine, Tehran University of medical sciences , Tehran, Iran.;Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, and the University of Medical Science , Tehran, Iran.
作者:
医学主题词
青少年(Adolescent);共济失调性毛细血管扩张(Ataxia Telangiectasia);活组织检查(Biopsy);女(雌)性(Female);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);免疫球蛋白类别转换(Immunoglobulin Class Switching);免疫球蛋白类, 静脉内(Immunoglobulins, Intravenous);伊朗(Iran);突变(Mutation);表型(Phenotype);登记(Registries);皮肤(Skin);治疗结果(Treatment Outcome)
DOI
10.1080/08820139.2019.1692864
PMID
31762358
发布时间
2021-06-14
- 浏览2
Immunological investigations
597-610页
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