| pubmed-article:9473376 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:9473376 | lifeskim:mentions | umls-concept:C0021051 | lld:lifeskim |
| pubmed-article:9473376 | lifeskim:mentions | umls-concept:C0039194 | lld:lifeskim |
| pubmed-article:9473376 | lifeskim:mentions | umls-concept:C0220704 | lld:lifeskim |
| pubmed-article:9473376 | lifeskim:mentions | umls-concept:C0221099 | lld:lifeskim |
| pubmed-article:9473376 | lifeskim:mentions | umls-concept:C0033268 | lld:lifeskim |
| pubmed-article:9473376 | lifeskim:mentions | umls-concept:C1707520 | lld:lifeskim |
| pubmed-article:9473376 | lifeskim:mentions | umls-concept:C2348519 | lld:lifeskim |
| pubmed-article:9473376 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:9473376 | pubmed:dateCreated | 1998-3-2 | lld:pubmed |
| pubmed-article:9473376 | pubmed:abstractText | Monosomic deletions of chromosome 22q11.2 are the leading cause of DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome. DiGeorge syndrome was originally described as an immunodeficiency disorder secondary to impaired T cell production due to thymic aplasia or hypoplasia; however, the frequency of immunodeficiency in the other clinical syndromes associated with the chromosome 22q11.2 microdeletion has not been previously investigated. This study examines the frequency and severity of impaired T cell production and immunodeficiency in chromosome 22q11.2 deletion syndromes and the relationship of the immunodeficiency to specific phenotypic features. Sixty patients over 6 months of age with the characteristic chromosome 22q11.2 deletion underwent immunologic evaluations. Seventy-seven percent of patients with chromosome 22q11.2 deletions were found to have evidence of immunocompromise. The severity of the immunodeficiency did not correlate with any particular phenotypic feature, nor was it restricted to patients who were categorized as having DiGeorge syndrome. Therefore, impaired T cell production and impaired immunologic function are common in patients with deletions of chromosome 22q11.2. The presence or severity of the immunocompromise cannot be predicted based on other phenotypic features and each child should be individually assessed for immune function. | lld:pubmed |
| pubmed-article:9473376 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9473376 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9473376 | pubmed:language | eng | lld:pubmed |
| pubmed-article:9473376 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:9473376 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:9473376 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:9473376 | pubmed:month | Feb | lld:pubmed |
| pubmed-article:9473376 | pubmed:issn | 0090-1229 | lld:pubmed |
| pubmed-article:9473376 | pubmed:author | pubmed-author:ZackaiE HEH | lld:pubmed |
| pubmed-article:9473376 | pubmed:author | pubmed-author:EmanuelB SBS | lld:pubmed |
| pubmed-article:9473376 | pubmed:author | pubmed-author:RandallPP | lld:pubmed |
| pubmed-article:9473376 | pubmed:author | pubmed-author:DriscollD ADA | lld:pubmed |
| pubmed-article:9473376 | pubmed:author | pubmed-author:McDonald-McGi... | lld:pubmed |
| pubmed-article:9473376 | pubmed:author | pubmed-author:SullivanK EKE | lld:pubmed |
| pubmed-article:9473376 | pubmed:author | pubmed-author:JawadA FAF | lld:pubmed |
| pubmed-article:9473376 | pubmed:copyrightInfo | Copyright 1998 Academic Press. | lld:pubmed |
| pubmed-article:9473376 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:9473376 | pubmed:volume | 86 | lld:pubmed |
| pubmed-article:9473376 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:9473376 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:9473376 | pubmed:pagination | 141-6 | lld:pubmed |
| pubmed-article:9473376 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:9473376 | pubmed:meshHeading | pubmed-meshheading:9473376-... | lld:pubmed |
| pubmed-article:9473376 | pubmed:meshHeading | pubmed-meshheading:9473376-... | lld:pubmed |
| pubmed-article:9473376 | pubmed:meshHeading | pubmed-meshheading:9473376-... | lld:pubmed |
| pubmed-article:9473376 | pubmed:meshHeading | pubmed-meshheading:9473376-... | lld:pubmed |
| pubmed-article:9473376 | pubmed:meshHeading | pubmed-meshheading:9473376-... | lld:pubmed |
| pubmed-article:9473376 | pubmed:meshHeading | pubmed-meshheading:9473376-... | lld:pubmed |
| pubmed-article:9473376 | pubmed:meshHeading | pubmed-meshheading:9473376-... | lld:pubmed |
| pubmed-article:9473376 | pubmed:meshHeading | pubmed-meshheading:9473376-... | lld:pubmed |
| pubmed-article:9473376 | pubmed:meshHeading | pubmed-meshheading:9473376-... | lld:pubmed |
| pubmed-article:9473376 | pubmed:meshHeading | pubmed-meshheading:9473376-... | lld:pubmed |
| pubmed-article:9473376 | pubmed:meshHeading | pubmed-meshheading:9473376-... | lld:pubmed |
| pubmed-article:9473376 | pubmed:year | 1998 | lld:pubmed |
| pubmed-article:9473376 | pubmed:articleTitle | Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. | lld:pubmed |
| pubmed-article:9473376 | pubmed:affiliation | Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. | lld:pubmed |
| pubmed-article:9473376 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:9473376 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9473376 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9473376 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9473376 | lld:pubmed |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:9473376 | lld:pubmed |
