Linked Life Data

10792291

Source:http://linkedlifedata.com/resource/pubmed/id/10792291

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2000-6-14
pubmed:abstractText
Haemophagocytic lymphohistiocytosis (HLH) is characterized by destruction of haematopoietic elements, and is associated with a variety of manifestations including immune abnormalities. We describe an infant with HLH who had no evidence of infection or malignancy. He had markedly reduced natural killer (NK) and T-cell numbers and mitogen responses, consistent with severe combined immune deficiency. Western blot and flow cytometry analyses revealed an absence of interleukin (IL)-2 receptor gamma (gamma common) chain expression and a transition (C --> T) at nucleotide 684 in the gamma common gene. This novel case highlights the need for a thorough evaluation of immunological phenotype and genotype in patients with HLH.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0007-1048
pubmed:author
pubmed:issnType
Print
pubmed:volume
108
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
834-7
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Haemophagocytic lymphohistiocytosis in X-linked severe combined immunodeficiency.
pubmed:affiliation
Division of Immunology/Allergy, Department of Paediatrics, The Infection, Immunity, Injury and Repair Program, Research Institute, The Hospital for Sick Children and The University of Toronto, Canada.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't