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Digeorge syndrome/chromosome 22q11.2 deletion syndrome

Digeorge syndrome/chromosome 22q11.2 deletion syndrome DiGeorge syndrome is characterized by conotruncal cardiac defects, hypocalcemia, and a hypoplastic thymus. Many, but not all, patients have a heterozygous deletion of chromosome 22q11.2. In its most severe form, it represents a devastating syndrome with high mortality. Patients with severe immunodeficiendy are candidates for a thymic transplant or a fully matched bone marrow transplant. Fortunately, the majority of patients with either DiGeorge syndrome or chromosome 22q11.2 deletion syndrome have a mild to moderate immunodeficiency. These patients may develop recurrent infections or autoimmune disease. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Current Allergy and Asthma Reports Springer Journals

Digeorge syndrome/chromosome 22q11.2 deletion syndrome

Current Allergy and Asthma Reports , Volume 1 (5) – May 25, 2001

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References (63)

Publisher
Springer Journals
Copyright
Copyright © 2001 by Current Science Inc
Subject
Medicine & Public Health; Allergology; Pneumology/Respiratory System; Otorhinolaryngology; Infectious Diseases
ISSN
1529-7322
eISSN
1534-6315
DOI
10.1007/s11882-001-0029-z
Publisher site
See Article on Publisher Site

Abstract

DiGeorge syndrome is characterized by conotruncal cardiac defects, hypocalcemia, and a hypoplastic thymus. Many, but not all, patients have a heterozygous deletion of chromosome 22q11.2. In its most severe form, it represents a devastating syndrome with high mortality. Patients with severe immunodeficiendy are candidates for a thymic transplant or a fully matched bone marrow transplant. Fortunately, the majority of patients with either DiGeorge syndrome or chromosome 22q11.2 deletion syndrome have a mild to moderate immunodeficiency. These patients may develop recurrent infections or autoimmune disease.

Journal

Current Allergy and Asthma ReportsSpringer Journals

Published: May 25, 2001

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