Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-09-30

Study Completion Date

2016-09-30

Brief Summary

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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.

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Detailed Description

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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

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Severe Combined Immunodeficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Severe Combined Immunodeficiency

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.

gene sequencing

Intervention Type GENETIC

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

Interventions

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gene sequencing

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

Intervention Type GENETIC

Eligibility Criteria

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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.

Minimum Eligible Age

2 Months

Maximum Eligible Age

2 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No