Linked Life Data

8989455

Source:http://linkedlifedata.com/resource/pubmed/id/8989455

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-3-11
pubmed:abstractText
Immunodeficiency occurs in numerous genetic syndromes. While it is the dominant manifestation in primary immunodeficiencies, immune deficits may also be seen in a variety of other recognizable syndromes. Immunodeficiency has been reported in 64 such conditions, adding to the 45 recognized primary immunodeficiencies. These uncommon syndromes with immune defects can present with: (a) growth deficiency (11 syndromes with disproportionate or proportionate short stature), (b) specific organ system dysfunction (18 with gastrointestinal, dermatologic, or neurologic abnormalities), (c) inborn errors of metabolism (13), (d) miscellaneous anomalies (10), or (e) chromosome anomalies (12). In most of the disorders, only some of the affected patients have immune defects. However, in 27 syndromes, immunodeficiency is a constant finding. We briefly review the clinical manifestations of each syndrome and delineate the specific associated immune defects. In most syndromes, the connection between the immune and other defects is unknown. Recognition of these conditions involving both the immune and other organ systems may facilitate accurate diagnosis and management as well as yield information regarding genes critical for the development of the involved systems.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0148-7299
pubmed:author
pubmed:issnType
Print
pubmed:day
30
pubmed:volume
66
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
378-98
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Immunodeficiency as a component of recognizable syndromes.
pubmed:affiliation
Department of Pediatrics, Children's Hospital of Los Angeles, California, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Research Support, Non-U.S. Gov't