Clinical and immunological characteristics in patients with 22q11 deletion syndrome

Introduction: We aim to describe the clinical and immunologic characteristics of a cohort of pediatric patients with 22q11 deletion syndrome at HOMI.
Methods: We reviewed the medical charts of patients with confirmed 22q11 deletion with immunologic studies in the past 2 years.
Results: In our cohort of 24 patients there was a slight male predominance (54%), the median age was 3.5 years (IQR 8.8). Seventy-one percent had congenital heart disease, and 12.5% had palatal anatomic defects. There were ear abnormalities in 62.5% and other craniofacial abnormalities in 54%. Language alteration was evident in 58%, 12.5% had cognitive impairment and 1 patient had depression. One third of the patients had current hypoparathyroidism with calcium supplementation.
In the immunologic work up CD3+ T cell lymphopenia was evident in 42% of the patients, CD4+ T cell lymphopenia in 54% and CD8+ T cell lymphopenia in 42%. None of the patients had low B cells and only 2 patients had low NK cells. There were low serum IgA levels in 17%, low IgM in 21% and low IgG in 12.5%. Tetanus antibodies vaccine titters were protective in 3/6 patients; for diphtheria 2/5 patients had protective titters. For mumps and rubella only 1 and 2 out of 5 had adequate post-vaccination titters, respectively. Pneumococcal vaccine response was available in 6 patients, with an adequate response in 2 patients, and moderate and severe deficiency in 3 and 1 patients respectively.
We found allergic disease and autoimmune disease in 25% of the patients each. There was a history of recurrent infection in 42%. Seven patients were receiving immunoglobulin therapy and 3 were receiving prophylactic antibodies.
Conclusion: In our cohort we found lower cardiac and palatal defects. There was CD4+ T cell lymphopenia in more than half of the patients and humoral antibodies defects are not unusual.

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