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PMID: 11892070 Published · ppublish English Journal Article Review

DiGeorge syndrome/chromosome 22q11.2 deletion syndrome.

Current allergy and asthma reports ·Vol. 1 ·No. 5 ·2001-09-00 ·Pages 438-44

Sullivan KE

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 immunodeficiency 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.

MeSH Terms
Chromosome Deletion Chromosomes, Human, Pair 22/immunology DiGeorge Syndrome/epidemiology,immunology,therapy Humans Immunologic Deficiency Syndromes/epidemiology,immunology,therapy
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Sullivan K E
Division of Immunologic and Infectious Diseases, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA. [email protected]
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Article Info
Journal
Current allergy and asthma reports
Abbr.
Curr Allergy Asthma Rep
ISSN
1529-7322
DOI
10.1007/s11882-001-0029-z
Email
[email protected]
Published
2001-09-00
Pages
438-44
Language
English
Region
United States
NLM ID
101096440
Subset
IM
External Links
PubMed source DOI: 10.1007/s11882-001-0029-z View journal details
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