Severe Combined Immunodeficiency
Conditions
Keywords
Clinical Characteristics, Genetic Profiles
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.
Interventions
GENETICgene sequencing
Amplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing.
Sponsors
Shanghai Children's Medical Center
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
2 Months to 2 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| times of infections | 2 years |
Countries
China
Contacts
Primary ContactYing-Ying Jin
Outcome results
None listed