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

M

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

Trial contacts and locations

0

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Data sourced from clinicaltrials.gov

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