Chinese Medical E-ournals Database

Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition) ›› 2014, Vol. 10 ›› Issue (03): 343 -347. doi: 10.3877/cma.j.issn.1673-5250.2014.03.016

Special Issue:

Original Article

Gene Mutation of Interleukin-2 Receptor Common Gamma Chain in Four Male Infants with X-Linked Severe Combined Immunodeficiency

Poning Liu1, Hong Li1, Qiang Li1()   

  1. 1. Department of Pediatric Hematology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
  • Received:2014-03-14 Revised:2014-05-04 Published:2014-06-01
  • Corresponding author: Qiang Li
  • About author:
    (Corresponding author: Li Qiang, Email: )
Objective

To analyse the relationship between clinical manifestations and the mutation of interleukin-2 receptor common gamma chain (IL-2RG) mutation of X-linked severe combined immunodeficiency (SCID) caused by IL-2RG.

Methods

From May 2010 to September 2012, four boys who were clinically suspected as X-linked SCID were enrolled in this study. The study protocol was approved by the Ethical Review Board of Investigation in Human Being of West China Second University Hospital, Sichuan University.Informed consent was obtained from each participants' parents. IL-2RG mutation were detected and analyzed in four patients and their family members.

Results

Four boys were all suffered by severe pulmonary infection (severe pneumonia) and demonstrated to have absence of thymus or dysplastic thymus by chest X-ray film. Among them, three patients had tuberculosis infection after bacilli Calmette-Guerin (BCG) vaccination (75%), two patients had family history (50%), and all patients suffered lymphopenia (100%). All 4 male infants were demonstrated to be X-linked SCID due to the mutation of IL-2RG, including 2 patients with nonsense mutations (50%, c. 711.G>A, p. W237X and c. 578.G>A, p. W193X, respectively), one missense mutation (25%, c. 173C>A, p. P58Q), and 1 splice site mutation (25%, IVS5-2 G>T). The linear relatives of 3 patients and maternal relatives were detected the mutation of IL-2RG, and 3 patients were demonstrated to have family carriers (75%) and one patient was suffered by de novo mutation (25%).

Conclusions

The detection of IL-2RG gene mutation can confirm clinical diagnosis of X-linked SCID which is critical for patients to take hematopoietic stem cell transplantation as soon as possible to reconstruction of immunity before the fatal infection occurred. The early immune reconstruction can offer the best chance of long term survival.

表1 4例患儿的临床特征
Table 1 Clinical characterizations of four infants with X-linked SCID
表2 4例患儿血常规检测结果(×109/L)
Table 2 Results of complete blood count of four infants with X-linked SCID(×109/L)
表3 4例患儿免疫学检测结果(%)
Table 3 Results of immunology detection of four infants with X-linked SCID(%)
表4 4例患儿IL-2RG基因突变测定结果
Table 3 The gene mutations of IL-2RG of four infants with X-SCID
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