Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China

• Conditions: Severe Combined Immunodeficiency
• Interventions: Genetic: gene sequencing

• Registration Number: NCT02231983
• Lead Sponsor: Shanghai Children's Medical Center

Brief Summary

Severe combined immunodeficiency (SCID), a rare primary immunodeficiency dieases (PID), is poorly characterized in mainland China. We meant to explore the patients with SCID refered to our hospital and summarize their clinical manifestations and genetic features.

Detailed Description

Diagnostic criteria were based on recommendations by the Pan-American Group for Immunodeficiency and the European Society for Immunodeficiencies, which included failure to thrive, persistent diarrhea, respiratory symptoms, and oral candidiasis, or Pneumocystis pneumonia, severe bacterial infections, and disseminated Bacillus Calmette-Guérin (BCG) infection during the first 2 to 7 months of life. In addition, patients included in the study were \<2 years of age, with either transplacentally acquired maternal T cells or \<20 % CD3+ T cells, the absolute lymphocyte count (ALC) \<3000/mm3. Exclusion criteria include HIV infection, congenital rubella, DiGeorge syndrome, Zap70 deficiency, Cartilage hair hypoplasia, PNP deficiency and MHC class II deficiency.

Study Timeline

• Status Verified: 2014-09
• Study Start: 2014-09
• Study First Submitted: 2014-09-01
• Study First Submitted QC: 2014-09-01
• Last Update Submitted: 2014-09-01
• Study First Posted: 2014-09-04
• Last Update Posted: 2014-09-04
• Primary Completion: 2016-09
• Study Completion: 2016-09

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

Diagnostic criteria were based on recommendations by the Pan-American Group for Immunodeficiency and the European Society for Immunodeficiencies, which included failure to thrive, persistent diarrhea, respiratory symptoms, and oral candidiasis, or Pneumocystis pneumonia, severe bacterial infections, and disseminated Bacillus Calmette-Guérin (BCG) infection during the first 2 to 7 months of life.

Exclusion Criteria

HIV infection, congenital rubella, DiGeorge syndrome, Zap70 deficiency, Cartilage hair hypoplasia, PNP deficiency and MHC class II deficiency.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Severe Combined Immunodeficiency	gene sequencing	Case histories were analyzed to grasp important characteristics of the diseases. Distribution of lymphocyte subsets from peripheral blood were examined by flow cytometry. Amplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing.

Primary Outcome Measures

Name	Time	Method
times of infections	2 years

Trial Locations

Locations (1)

Shanghai children's medical center; 🇨🇳 Shanghai, Shanghai, China