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

Mahidol University43 enrolled

Overview

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

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 Type

OBSERVATIONAL

Enrollment

Conditions

Immune Defect 22q11.2 Deletion Syndrome

Eligibility

Sex: ALLMax age: 15 Years

Medical Language ↔ Plain English

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

Locations (1)

Siriraj Hospital

Bangkoknoi, Bangkok, Thailand

Outcomes

Primary Outcomes

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

Time frame: 18 months

Secondary Outcomes

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

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.