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

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

Study Overview

• Status: Completed
• Conditions: 22q11.2 Deletion Syndrome; Immune Defect

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.

• Study Type: Observational
• Enrollment (Actual): 43

Contacts and Locations

Study Locations

• Thailand
  • Bangkok
    • Bangkoknoi, Bangkok, Thailand, 10700
      • Siriraj Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 15 years (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

22q11.2 deletion syndrome diagnosed from Fluorescence in situ hybridization (FISH) for 22q11

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
age of resolution in immune defect in 22q11.2 Deletion Syndrome	18 months

Secondary Outcome Measures

Outcome Measure	Time Frame
incidence of immunodeficiencies in 22q11.2 Deletion Syndrome	18 months
type of infectious disease in 22q11.2 Deletion Syndrome	18 months

Collaborators and Investigators

• Sponsor: Mahidol University
• Investigators: Principal Investigator: Punchama Pacharn, MD., Mahidol University

Publications and helpful links

General Publications

• McLean-Tooke A, Barge D, Spickett GP, Gennery AR. Immunologic defects in 22q11.2 deletion syndrome. J Allergy Clin Immunol. 2008 Aug;122(2):362-7, 367.e1-4. doi: 10.1016/j.jaci.2008.03.033. Epub 2008 May 16.
• Chinen J, Rosenblatt HM, Smith EO, Shearer WT, Noroski LM. Long-term assessment of T-cell populations in DiGeorge syndrome. J Allergy Clin Immunol. 2003 Mar;111(3):573-9. doi: 10.1067/mai.2003.165.

Study record dates

Study Major Dates

• Study Start: February 1, 2015
• Primary Completion (Actual): February 1, 2016
• Study Completion (Actual): February 1, 2016

Study Registration Dates

• First Submitted: April 10, 2015
• First Submitted That Met QC Criteria: May 28, 2015
• First Posted (Estimate): June 2, 2015

Study Record Updates

• Last Update Posted (Estimate): March 23, 2016
• Last Update Submitted That Met QC Criteria: March 22, 2016
• Last Verified: March 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Lymphatic Diseases; Endocrine System Diseases; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Musculoskeletal Diseases; Parathyroid Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Abnormalities, Multiple; Chromosome Disorders; 22q11 Deletion Syndrome; Lymphatic Abnormalities; Hypoparathyroidism; Syndrome; DiGeorge Syndrome
• Other Study ID Numbers: 794/2557(EC4)