The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.

PURPOSE OF REVIEW: New findings regarding the clinical manifestations and care of patients with DiGeorge syndrome or chromosome 22q11.2 deletion syndrome will be reviewed. Immunologists and primary care providers often are in a position to coordinate the complex care needs of these patients and an awareness of the clinical features is essential.

RECENT FINDINGS: DiGeorge syndrome typically occurs in association with a hemizygous deletion of chromosome 22q11.2. Approximately 5-10% of patients with the clinical entity of DiGeorge syndrome do not have the deletion. Recent evidence indicates that the T cell compartment in both patients with the deletion and patients with clinical DiGeorge syndrome without the deletion is less robust than is often indicated by standard T cell enumeration.

SUMMARY: This past year has seen a dramatic increase in our understanding of the clinical features of patients with the deletion. Advances in our understanding of the immunodeficiency have been particularly exciting and clinicians should be aware of the characteristics of the immunodeficiency and its changes with age.