重症联合免疫缺陷病

最后审阅: 4 九月 2022
最后更新: 15 一月 2020

小结

定义

病史和体格检查

关键诊断因素

  • 存在的危险因素
  • 复发性和不寻常的严重感染
  • 慢性腹泻
  • 生长迟缓
  • 淋巴组织缺失
更多 关键诊断因素

其他诊断因素

  • 皮疹
  • 口腔或生殖器溃疡
  • 小头畸形
  • 骨骼异常
  • 失明
  • 肌张力障碍
  • 光照敏感性
其他诊断因素

危险因素

  • SCID 家族史
  • 婴儿死亡家族史
  • 讲阿萨巴斯卡语的美洲原住民
  • 亲缘关系
更多 危险因素

诊断性检查

首要检查

  • 全血细胞计数 (FBC)
  • 流式细胞仪
  • 胸部 X 线检查
  • 免疫球蛋白定量检测(IgG、IgM 和 IgA)
更多 首要检查

需考虑的检查

  • T细胞增殖试验
  • 酶测试
  • 血清尿酸
  • 胸部 MRI
  • 胸腔超声
  • 胸部 CT 扫描
  • 基因检测
  • 成纤维细胞培养物的放射敏感性测定
  • 基于聚合酶链反应的病毒血症检测
  • 眼底检查
更多 需考虑的检查

治疗流程

急症处理

确诊的SCID

撰稿人

作者

Javier Chinen, MD, PhD

Associate Professor

Pediatrics, Allergy, and Immunology

Baylor College of Medicine

Texas Children’s Hospital

Houston

TX

利益声明

JC declares that he has no competing interests.

鸣谢

Dr Chinen would like to gratefully acknowledge Dr John M. Cunningham, Dr James L. LaBelle, Dr John Routes, Dr James Verbsky, Dr Nicole Chase, and Dr Ebrahim Shakir, the previous contributors to this topic. JLL, JR, JV, and NC are authors of references cited in this topic. JMC and ES declare that they have no competing interests.

同行评议者

Kathleen Sullivan, MD, PhD (CHOP)

Professor of Pediatrics

University of Pennsylvania

Chief

Division of Allergy and Immunology

Children's Hospital of Philadelphia

Philadelphia

PA

利益声明

KS declares that she has no competing interests.

Charles Kirkpatrick, MD (UCHSC)

Professor of Medicine

Director

Adult Immunodeficiency Program

University of Colorado Denver

Aurora

CO

利益声明

CK is an author of a reference cited in this topic. CK has received speaker fees from Cention, Aventis Behring, and Bristol Myers Squibb. CK has received honorarium for speaking at the Aspen Allergy Conference, for the Colorado Allergy Society. CK ran the research program for a biotechnology company with an approximate budget of $3.5 million.

Waseem Qasim, BMedSci (Hons), MBBS, MRCP (UK), MRCPCH, PhD

Senior Lecturer

Institute of Child Health

Consultant in Paediatric Immunology & Bone Marrow Transplantation

Great Ormond Street Hospital

London

UK

利益声明

WQ declares that he has no competing interests.

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