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

Overview

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

- Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome

Study Type

  • Study Type: Observational
  • Study Design
  • Study Primary Completion Date: February 2016

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.

Clinical Trial Outcome Measures

Primary Measures

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

Secondary Measures

  • 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

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: 15 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Mahidol University
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Punchama Pacharn, MD., Principal Investigator, Mahidol University

References

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.

Citations Reporting on Results

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.

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