Journal of Clinical Immunology

, Volume 33, Issue 3, pp 526–539 | Cite as

Clinical Characteristics and Genetic Profiles of 44 Patients with Severe Combined Immunodeficiency (SCID): Report from Shanghai, China (2004–2011)

  • Chun-Mei Yao
  • Xiao-Hua Han
  • Yi-Dan Zhang
  • Hui Zhang
  • Ying-Ying Jin
  • Rui-Ming Cao
  • Xi Wang
  • Quan-Hua Liu
  • Wei Zhao
  • Tong-Xin Chen
Original Research


Severe combined immunodeficiency (SCID), a rare type of genetic associated immune disorder, is poorly characterized in mainland China. We retrospectively reviewed 44 patients with SCID who received treatment from 2004 to 2011 in Shanghai, China, and herein summarize their clinical manifestations and immunological and preliminary genetic features. The male-to-female ratio was 10:1. Twenty five patients presented with X-SCID symptoms. Only one patient was diagnosed before the onset of symptoms due to positive family history. The mean time of delay in the diagnosis of X-SCID was 2.69 months (range, 0.5–8.67). Thirty-seven of the 44 patients died by the end of 2011 with the mean age of death being 7.87 months (range, 1.33–31). Six patients received hematopoietic stem cell transplantation (HSCT); only one of them survived, who was transplanted twice. The time between onset and death was shorter in the HSCT-treated group compared with the untreated group (2.87 ± 1.28 and 3.34 ± 0.59 months, respectively), probably due to active infections during transplantation. Bacillus Calmette–Guérin (BCG) complications occurred in 14 of the 34 patients who received BCG vaccination. Transfusion-induced graft-versus-host disease occurred in 5 patients. Total 20 mutations in interleukin-2 receptor subunit gamma (IL2RG) were identified in 22 patients, including 11 novel mutations. Most patients were misdiagnosed before referred to our SCID Center. Therefore, establishing more diagnostic centers dedicated to the care of PID and accessible by primary immunodeficiency patients will facilitate early, correct diagnosis and better care of SCID in China.


Severe combined immunodeficiency SCID Chinese IL2RG common gamma chain 



Adenosine deaminase


Absolute lymphocyte count


Bacillus Calmette–Guérin


Graft-versus-host disease


Human leukocyte antigen


Hematopoietic stem cell transplantation


Interleukin-2 receptor subunit gamma


Natural killer


Primary immunodeficiency disease


Severe combined immunodeficiency


Statement of Financial Support

This research was supported by grants from National Natural Science Foundation of China (81273314) and Ph.D. Programs, Foundation of Shanghai Jiao Tong University School of Medicine (BXJ201025)


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Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • Chun-Mei Yao
    • 1
    • 2
  • Xiao-Hua Han
    • 3
  • Yi-Dan Zhang
    • 4
  • Hui Zhang
    • 2
  • Ying-Ying Jin
    • 2
  • Rui-Ming Cao
    • 1
  • Xi Wang
    • 1
  • Quan-Hua Liu
    • 1
  • Wei Zhao
    • 5
  • Tong-Xin Chen
    • 2
  1. 1.Department of Pediatrics, Xinhua HospitalShanghai Jiao Tong University School of MedicineShanghaiChina
  2. 2.Department of Immunology, Institute of Pediatric Translational Medicine, Shanghai Children’s Medical CenterShanghai Jiao Tong University School of MedicineShanghaiChina
  3. 3.Department of PediatricsShengjing Hospital of China Medical UniversityShenyangChina
  4. 4.Department of Internal MedicineThe Affiliated Hospital to Changchun University of Chinese MedicineChangchunChina
  5. 5.Division of Allergy and Immunology, Department of PediatricsVirginia Commonwealth UniversityRichmondUSA

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