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

22q11.2 Deletion Syndrome Clinical Trial

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

Status Completed

Clinical Trial Summary

• Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome

• Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome

Clinical Trial 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. ;

Study Design

Observational Model: Case-Only

Related Conditions & MeSH terms

• 22q11.2 Deletion Syndrome
• DiGeorge Syndrome
• Immune Defect
• Syndrome

• NCT number: NCT02460328
• Study type: Observational
• Source: Mahidol University
• Status: Completed
• Phase: N/A
• Start date: February 2015
• Completion date: February 2016