Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2002-8-2
pubmed:abstractText
X-linked lymphoproliferative disease (Duncan's Disease) was first encountered by David T. Purtilo in 1969. The first communication describing the disease was published in 1975. In 1989 the disease locus was mapped to Xq25. Ten years later the gene (SH2D1A, SAP, DSHP), which is absent or mutated in XLP patients was identified. Since that the protein crystal structure of this small, SH2-domain containing protein has been solved, target molecules of the protein have been identified, physiological and pathological protein/protein interactions have been characterized, and the mouse model of the gene mutation has been developed. That said, a complete understanding of the function of the normal SH2D1A protein in immunoregulation and of the altered immune responses in XLP patients is not yet at hand. Therein lies the legacy of Purtilo's discovery for, as with other primary immunodeficiencies, these "experiments of nature" offer a window on the beauty of the immune system. In due course, the manner by which this gene orchestrates an elegant response (akin to a Mozart divertimento) to EBV infection shall be defined.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Antigens, CD, http://linkedlifedata.com/resource/pubmed/chemical/CD150 antigen, http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins, http://linkedlifedata.com/resource/pubmed/chemical/DNA-Binding Proteins, http://linkedlifedata.com/resource/pubmed/chemical/DOK1 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Dok1 protein, mouse, http://linkedlifedata.com/resource/pubmed/chemical/GAP-associated protein p62, http://linkedlifedata.com/resource/pubmed/chemical/Glycoproteins, http://linkedlifedata.com/resource/pubmed/chemical/Immunoglobulins, http://linkedlifedata.com/resource/pubmed/chemical/Intracellular Signaling Peptides..., http://linkedlifedata.com/resource/pubmed/chemical/Phosphoproteins, http://linkedlifedata.com/resource/pubmed/chemical/RNA-Binding Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Cell Surface, http://linkedlifedata.com/resource/pubmed/chemical/SH2D1A protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Sh2d1a protein, mouse
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1042-8194
pubmed:author
pubmed:issnType
Print
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1189-201
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:12152986-Animals, pubmed-meshheading:12152986-Antigens, CD, pubmed-meshheading:12152986-B-Lymphocytes, pubmed-meshheading:12152986-Carrier Proteins, pubmed-meshheading:12152986-DNA Mutational Analysis, pubmed-meshheading:12152986-DNA-Binding Proteins, pubmed-meshheading:12152986-Epstein-Barr Virus Infections, pubmed-meshheading:12152986-Glycoproteins, pubmed-meshheading:12152986-Humans, pubmed-meshheading:12152986-Immunoglobulins, pubmed-meshheading:12152986-Intracellular Signaling Peptides and Proteins, pubmed-meshheading:12152986-Killer Cells, Natural, pubmed-meshheading:12152986-Lymphoproliferative Disorders, pubmed-meshheading:12152986-Mice, pubmed-meshheading:12152986-Mice, Knockout, pubmed-meshheading:12152986-Multigene Family, pubmed-meshheading:12152986-Mutation, pubmed-meshheading:12152986-Phosphoproteins, pubmed-meshheading:12152986-RNA-Binding Proteins, pubmed-meshheading:12152986-Receptors, Cell Surface, pubmed-meshheading:12152986-Signal Transduction, pubmed-meshheading:12152986-Structure-Activity Relationship, pubmed-meshheading:12152986-T-Lymphocytes, pubmed-meshheading:12152986-X Chromosome, pubmed-meshheading:12152986-src Homology Domains
pubmed:year
2002
pubmed:articleTitle
A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses.
pubmed:affiliation
Center of Human Genetics, University of Nebraska Medical Center, Omaha 68198-5454, USA. jsumegi@unmc.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Review, Research Support, Non-U.S. Gov't