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
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
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
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）
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
治疗流程
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.
鉴别诊断
- 22q11.2微缺失综合征/先天性胸腺发育不全
- Omenn综合征
- ζ 链相关蛋白 70 缺陷
更多 鉴别诊断指南
- Strimvelis 用于治疗腺苷脱氨酶缺陷型重症联合免疫缺陷
- 关于异基因造血细胞移植后重症联合免疫缺陷患者晚期效果筛查和管理的建议
更多 指南
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