The clinical, immunological, and molecular spectrum of... : Current Opinion in Allergy and Clinical Immunology (original) (raw)

Primary immune deficiency disease

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

Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA

Correpondence to Kathleen E. Sullivan, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, 34th St. and Civic Center Boulevard, Philadelphia, PA 19104, USA Tel: + 1215 590 1697; fax: +1 215 590 3044; e-mail: [email protected]

Abbreviations

CNS: central nervous system

COMT: catechol-O-methyltransferase

Abstract

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.