Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome.

摘要

Partial DiGeorge syndrome-(pDGS) is a condition characterized by conotruncal cardiac anomalies, hypocalcemia, and a variable, although not severe, T-cell immunodeficiency. A microdeletion of chromosome 22ql 1 is associated with more than 90% of cases.1 Reports of autoimmunity in patients with pDGS have been sporadic, with the exception of 2 studies that yielded very different prevalences of this complication (8.7%2 and 33%3). We examined our cohort of 130 pediatric patients with pDGS for the prevalence of autoimmunity and associated laboratory findings, suggesting that higher numbers of naive CD4~+ T cells (CD4~+CD45RA~+ cells) measured in early childhood might be associated with a lower risk of autoimmune disease.