Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
Completed
- Conditions
- Immune Defect22q11.2 Deletion Syndrome
- Registration Number
- NCT02460328
- Lead Sponsor
- Mahidol University
- Brief Summary
* Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome
* Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome
- Detailed Description
22q11.2 Deletion Syndrome is the most common for microdeletion syndrome. The incidence is about 1:4000 of live birth. Clinical features in this syndrome are vary which consist of conotruncal cardiac anomalies, developmental disabilities, palatal anomalies, speech delay, hypocalcemia, characteristic facial features and immunodeficiencies. The most common type of immunodeficiencies is T cell defect that associated with thymic hypoplasia. In the present time, the investigators don't know about the resolution of immune defect in this syndrome.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 43
Inclusion Criteria
- 22q11.2 deletion syndrome patients in allergy and immunology clinic, genetic clinic, cardio clinic, genetic clinic and development clinic
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Exclusion Criteria
- loss follow up in 22q11.2 deletion syndrome patients or incomplete medical record
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Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method age of resolution in immune defect in 22q11.2 Deletion Syndrome 18 months
- Secondary Outcome Measures
Name Time Method incidence of immunodeficiencies in 22q11.2 Deletion Syndrome 18 months type of infectious disease in 22q11.2 Deletion Syndrome 18 months
Trial Locations
- Locations (1)
Siriraj Hospital
🇹ðŸ‡Bangkoknoi, Bangkok, Thailand