A study on primary immunodeficiencies in Indian Population to understand the genetics
Not Applicable
- Conditions
- Health Condition 1: D829- Immunodeficiency associated with major defect, unspecified
- Registration Number
- CTRI/2020/08/027311
- Lead Sponsor
- Indian Council of Medical Research
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Yet Recruiting
- Sex
- Not specified
- Target Recruitment
- 0
Inclusion Criteria
Families with one or more individuals with phenotypic features suggestive of Inborn errors of immunities will be recruited.
Exclusion Criteria
Patients with secondary immunodeficiencies will not be recruited
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method The study will provide the detailed description of clinical characteristics of IEIs in Indian population. <br/ ><br>Delineation of new phenotypes of IEIs by thorough clinical evaluation <br/ ><br>Identification of novel pathogenic variants and expansion of the mutation spectrum of known genes of IEIs.Timepoint: At the end of three years
- Secondary Outcome Measures
Name Time Method Identification of novel genetic etiologies of IEIs, revealing the underlying disease mechanisms helps in genetic counsellingTimepoint: At 1 yer, 2 years, 3 years