Health Condition 1: D898- Other specified disorders involving the immune mechanism, not elsewhere classified
Conditions
Interventions
Control Intervention1: NIL: NIL
Sponsors
Dr Dhanya Lakshmi N
Eligibility
Inclusion criteria
Inclusion criteria: 1. Individuals who fulfill the clinical diagnostic criteria for a specific autoinflammatory disease 2. Individuals with clinical features like recurrent fever, oral ulcers, non- infectious osteolytic lesions, synovitis, arthritis or rash and elevated inflammatory markers like C reactive protein (CRP) and Erythrocyte Sedimentation Rate (ESR) or family history suggestive of a monogenic autoinflammatory disease. 3. Individuals with undefined periodic fevers characterised by recurrent attacks of fever with a temperature of at least 38.5°C (axillary) for a period of at least 6 months, associated with increased acute phase reactants during the episodes and normal clinical and laboratory features in between attacks and not fulfilling the inclusion criteria for PFAPA, MKD, FMF, TRAPS, CAPS where other causes of recurrent fever are excluded
Exclusion criteria
Exclusion criteria: 1. Individuals with malignancy 2. Individuals with infection, sepsis or any other medical condition, which would warrant exclusion in the opinion of a clinical immunologist/ clinical geneticist
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - Systematic documentation of phenotypes of autoinflammatory diseases - Genomic landscape of autoinflammatory diseases in India will be unraveled - Novel gene disease associations may be discovered - Improved genetic diagnosis, clinical care and genetic counseling for familiesTimepoint: -At the end of each year -Recruitment will be completed by the end of year 4 | — |
Secondary
| Measure | Time frame |
|---|---|
| - Development of a cost effective NGS based panel testing for autoinflammatory diseases in India. - Potential impact on therapeutic strategies for treatment of autoinflammatory diseases. Timepoint: 5 years | — |
Countries
India
Contacts
Public ContactDr Dhanya Lakshmi N
Kasturba Medical College
Outcome results
None listed