| DiGeorge syndrome/chromosome 22q11.2 deletion syndrome. | |
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MedLine Citation:
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PMID: 11892070 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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K E Sullivan |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: Current allergy and asthma reports Volume: 1 ISSN: 1529-7322 ISO Abbreviation: Curr Allergy Asthma Rep Publication Date: 2001 Sep |
Date Detail:
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Created Date: 2002-03-14 Completed Date: 2002-04-10 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 101096440 Medline TA: Curr Allergy Asthma Rep Country: United States |
Other Details:
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Languages: eng Pagination: 438-44 Citation Subset: IM |
Affiliation:
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Division of Immunologic and Infectious Diseases, Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA. sullivak@mail.med.upenn.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Chromosome Deletion* Chromosomes, Human, Pair 22* / immunology DiGeorge Syndrome / epidemiology, immunology*, therapy Humans Immunologic Deficiency Syndromes / epidemiology, immunology, therapy |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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