BMJ Best Practice
最后审核时间: 十月 2018
最近更新时间: 一月 2018

小结

定义

病史和查体

关键诊断因素

  • 存在的危险因素
  • 反复感染
  • 慢性腹泻
  • 生长迟缓

其他诊断因素

  • 皮疹
  • 口腔或生殖器溃疡
  • 小头畸形
  • 骨骼畸形

危险因素

  • SCID家族史
  • 婴幼儿死亡家族史
  • 讲阿萨巴斯卡语的美国土著人、阿米什人或门诺派人
  • 亲缘关系

诊断性检查

首要检查

  • 全血细胞计数
  • 流式细胞仪检测
  • 胸片
  • 散射比浊法(免疫球蛋白定量测定)
全部具体信息

需要考虑的检查

  • T细胞增殖试验
  • 酶测试
  • 血肌酐酸
  • 胸部MRI
全部具体信息

新兴检查

  • 免疫印迹分析
全部具体信息

治疗流程

急性

贡献者

Donald N. Pritzker Professor and Chair of Pediatrics

Physician-in-Chief

The University of Chicago Medicine Comer Children’s Hospital

Director

Hematopoietic Stem Cell Transplantation

Department of Pediatrics

University of Chicago

Chicago

IL

利益冲突披露
JMC declares that he has no competing interests.

Assistant Professor of Pediatrics

Section of Pediatric Hematology/Oncology/Stem Cell Transplantation

Associate Director for Research, Hematopoietic Stem Cell Transplantation

Department of Pediatrics

University of Chicago

Chicago

IL

利益冲突披露
JLL is an author of a reference cited in this monograph.

Dr John M. Cunningham and Dr James L. LaBelle would like to gratefully acknowledge Dr John Routes, Dr James Verbsky, Dr Nicole Chase, and Dr Ebrahim Shakir, the previous contributors to this monograph. JR, JV, and NC are authors of a number of references cited in this monograph. ES declares that he has no competing interests.

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Professor of Pediatrics

University of Pennsylvania

Chief

Division of Allergy and Immunology

Children's Hospital of Philadelphia

Philadelphia

PA

利益冲突披露
KS declares that she has no competing interests.

Professor of Medicine

Director

Adult Immunodeficiency Program

University of Colorado Denver

Aurora

CO

利益冲突披露
CK is an author of a reference cited in this monograph. 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.

Senior Lecturer

Institute of Child Health

Consultant in Paediatric Immunology & Bone Marrow Transplantation

Great Ormond Street Hospital

London

UK

利益冲突披露
WQ declares that he has no competing interests.

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