NCT02231983

Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 50 (estimated)
• Sponsor: Shanghai Children's Medical Center · Academic / Other
• Sex: All
• Age: 2 Months – 2 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Severe Combined Immunodeficiency

Interventions

Type	Name	Description
GENETIC	gene sequencing	Amplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing.

Timeline

• Start date: 2014-09-01
• Primary completion: 2016-09-01
• Completion: 2016-09-01
• First posted: 2014-09-04
• Last updated: 2014-09-04

Locations

1 site across 1 country: China