Defining the risk of autoimmunity in partial DiGeorge Syndrome

Published Online: August 12, 2011

Very little is known about the long-term secondary immune consequences in partial DiGeorge Syndrome (pDGS), particularly autoimmunity, where a person’s immune system attacks healthy cells by mistake. Although most pDGS children do not appear more susceptible to infections, they present with immunological abnormalities. In this issue of The Journal of Allergy and Clinical Immunology (JACI), Tison et al. report on autoimmunity in a large group of children with pDGS, contributing to resolve this discrepancy.

One hundred thirty patients were followed a median of 6 years since birth. Eleven patients, or 8.5%, developed an autoimmune disease, with eight of them presenting with low blood cell counts or hypothyroidism. Juvenile arthritis and vitiligo (a skin condition in which pigments are lost) were also observed. This information may be used clinically to help guide counseling and laboratory screening decisions.

These findings help establish the prevalence rate for autoimmune diseases in pDGS, and suggest that low blood cell numbers early in life may determine the risk of developing autoimmune disease. It also demonstrates that autoimmune diseases occur with increased frequency in pDGS children, while appearing to be primarily affecting blood cells and the thyroid gland.


The Journal of Allergy and Clinical Immunology (JACI) is the official scientific journal of the AAAAI, and is the most-cited journal in the field of allergy and clinical immunology.

AAAAI - American Academy of Allergy Asthma & Immunology