Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China

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Brief Title

Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China

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 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 Type

Observational [Patient Registry]


Primary Outcome

times of infections


Condition

Severe Combined Immunodeficiency

Intervention

gene sequencing

Study Arms / Comparison Groups

 Severe Combined Immunodeficiency
Description:  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.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Genetic

Estimated Enrollment

50

Start Date

September 2014

Completion Date

September 2016

Primary Completion Date

September 2016

Eligibility Criteria

        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.
      

Gender

All

Ages

2 Months - 2 Years

Accepts Healthy Volunteers

No

Contacts

, , [email protected]

Location Countries

China

Location Countries

China

Administrative Informations


NCT ID

NCT02231983

Organization ID

SCID-20140901


Responsible Party

Sponsor

Study Sponsor

Shanghai Children's Medical Center


Study Sponsor

, , 


Verification Date

September 2014