NCT02460328

Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 43 (actual)
• Sponsor: Mahidol University · Academic / Other
• Sex: All
• Age: 15 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Immune Defect
• 22q11.2 Deletion Syndrome

Timeline

• Start date: 2015-02-01
• Primary completion: 2016-02-01
• Completion: 2016-02-01
• First posted: 2015-06-02
• Last updated: 2016-03-23

Locations

1 site across 1 country: Thailand