Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
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Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome
Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome
Condition or disease
Immune Defect22q11.2 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.
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Layout table for eligibility information
Ages Eligible for Study:
up to 15 Years (Child)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
22q11.2 deletion syndrome diagnosed from Fluorescence in situ hybridization (FISH) for 22q11
22q11.2 deletion syndrome patients in allergy and immunology clinic, genetic clinic, cardio clinic, genetic clinic and development clinic
loss follow up in 22q11.2 deletion syndrome patients or incomplete medical record