Clinical Trial: Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China

Study Status: Active, not recruiting
Recruit Status: Unknown status
Study Type: Observational [Patient Registry]

Official Title: Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China

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 Summary: 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.
Sponsor: Shanghai Children's Medical Center

Current Primary Outcome: times of infections [ Time Frame: 2 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Shanghai Children's Medical Center

Dates:
Date Received: September 1, 2014
Date Started: September 2014
Date Completion: September 2016
Last Updated: September 1, 2014
Last Verified: September 2014