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

Mahidol University

Status: Completed

Conditions: Immune Defect; 22q11.2 Deletion Syndrome

Study type: Observational

Funder types: Other

Identifiers

NCT02460328

794/2557(EC4)

Details and patient eligibility

About

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

Full 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.

Enrollment: 43 patients

Sex: All

Ages: Under 15 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• 22q11.2 deletion syndrome patients in allergy and immunology clinic, genetic clinic, cardio clinic, genetic clinic and development clinic

Exclusion criteria

• loss follow up in 22q11.2 deletion syndrome patients or incomplete medical record