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A study on primary immunodeficiencies in Indian Population to understand the genetics

Genetic Evaluation of Inborn Errors of Immunity in Indian Population

Status
Active, not recruiting
Phases
Unknown
Study type
Observational
Source
CTRI
Registry ID
CTRI/2020/08/027311
Enrollment
50
Registered
2020-08-21
Start date
Unknown
Completion date
Unknown
Last updated
2021-11-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Health Condition 1: D829- Immunodeficiency associated with major defect, unspecified

Interventions

None listed

Sponsors

Indian Council of Medical Research
Lead Sponsor

Eligibility

Inclusion criteria

Inclusion criteria: Families with one or more individuals with phenotypic features suggestive of Inborn errors of immunities will be recruited.

Exclusion criteria

Exclusion criteria: Patients with secondary immunodeficiencies will not be recruited

Design outcomes

Primary

MeasureTime frame
The study will provide the detailed description of clinical characteristics of IEIs in Indian population. Delineation of new phenotypes of IEIs by thorough clinical evaluation Identification of novel pathogenic variants and expansion of the mutation spectrum of known genes of IEIs.Timepoint: At the end of three years—

Secondary

MeasureTime frame
Identification of novel genetic etiologies of IEIs, revealing the underlying disease mechanisms helps in genetic counsellingTimepoint: At 1 yer, 2 years, 3 years—

Countries

India

Contacts

Public ContactGandham SriLakshmi Bhavani

Manipal Academy of Higher Education

gsl.bhavani@manipal.edu8555807868

Outcome results

None listed

Source: CTRI (via WHO ICTRP) · Data processed: Feb 4, 2026