Clinical Trial: Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
Brief Summary:
- Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome
- Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome
Detailed Summary: 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.
Sponsor: Mahidol University
Current Primary Outcome: age of resolution in immune defect in 22q11.2 Deletion Syndrome [ Time Frame: 18 months ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
- incidence of immunodeficiencies in 22q11.2 Deletion Syndrome [ Time Frame: 18 months ]
- type of infectious disease in 22q11.2 Deletion Syndrome [ Time Frame: 18 months ]
Original Secondary Outcome: Same as current
Information By: Mahidol University
Dates:
Date Received: April 10, 2015
Date Started: February 2015
Date Completion:
Last Updated: March 22, 2016
Last Verified: March 2016
