Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
Monday, March 7, 2016
South Exhibit Hall H (Convention Center)
Yiwa Suksawat, MD, Jittima Veskitkul, MD, Orathai Jirapongsananuruk, MD, Nualanong Visitsunthorn, MD, Pakit Vichyanond, MD FAAAAI, Punchama Pacharn, MD
Rationale: 22q11.2 deletion is the most common microdeletion syndrome . It is associated with cardiac anomalies, hypocalcemia, characteristic facies and variable decrease in immunological parameters especially in T cell numbers. The objective of this study is to investigate the immunological changes over time.

Methods: Forty-three medical records of 22q11.2 deletion syndrome patients were reviewed . Immunological parameters were evaluated every 6 months until they returned to normal level. Histories of infections were recorded. Kaplan-Meier survival curves were generated to depict the resolution of immune defect.

Results: Forty-three patients, aged 4 to 222 months were studied. Twenty-three (53.5%) of them were female. Twenty-six patients exhibited decreased CD4 numbers.  They returned to normal level in 15 (57.7%) patients. The median age of CD4 resolution was 31 months (range 3 – 204 months). T cell functions were abnormal in 3 patients. They returned to normal in all patients at median age 20 months (range 15-28 months). Six patients (13.9%) had abnormal serum immunoglobulin levels and they improved in 2 patients at 4 months and 12 months of age. The most common infection was pneumonia (69.8%). Eight patients (18.6%) did not have history of infection. BCG vaccination was administered in 42 patients at birth. Among 28 patients who had T cell defect, 2 of them developed BCGosis and disseminated BCG.

Conclusions: Immunodeficiencies in 22q11.2 deletion syndrome patients were T cell defect (65.1%) and decreased immunoglobulin levels (13.9%). The median age of CD4 resolution was 31 months.