| Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. | |
| | |
MedLine Citation:
|
PMID: 19398375 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Human invariant natural killer T cells (iNKT cells) are a unique population of T cells that express an invariantly rearranged T-cell receptor (TCR) composed of TCRValpha24 and TCRVbeta11 chains which recognize glycosphingolipid antigens presented by the CD1d molecule. iNKT cells are absent in patients with X-linked lymphoproliferative disease (XLP) due to SH2D1A mutation, and are reported to be decreased in patients with XLP due to BIRC4 mutations. However, mice deficient in the BIRC4 gene product, X-linked Inhibitor of Apoptosis (XIAP), have normal iNKT cell populations. Because of this, we studied iNKT cell populations in 6 patients with XLP due to BIRC4 mutations, with comparison to 103 pediatric and adult normal control samples. We found that iNKT cells constitute 0.008%-1.176% of normal peripheral blood T cells, and that iNKT cell populations were normal or increased in patients with BIRC4 mutations. We conclude that XLP due to BIRC4 mutation is not associated with decreased populations of iNKT cells, and that XIAP is likely not a requirement for iNKT cell development. |
| | |
Authors:
|
Rebecca A Marsh; Joyce Villanueva; Mi-Ok Kim; Kejian Zhang; Dan Marmer; Kimberly A Risma; Michael B Jordan; Jack J Bleesing; Alexandra H Filipovich |
Related Documents
:
|
9030975 - Functional characterization of nk1.1 + ly-6c+ cells. 16939815 - Characterization of in vitro migratory properties of anti-cd19 chimeric receptor-redire... 9576945 - Natural killer-like nonspecific tumor cell lysis mediated by specific ligand-activated ... 15147365 - Immunoregulatory defects of v alpha 24v+ beta 11+ nkt cells in development of wegener's... 21953415 - Update: peripheral t-cell lymphomas. 17586725 - Distinct roles of integrins alpha6 and alpha4 in homing of fetal liver hematopoietic st... |
Publication Detail:
|
Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't Date: 2009-04-23 |
Journal Detail:
|
Title: Clinical immunology (Orlando, Fla.) Volume: 132 ISSN: 1521-7035 ISO Abbreviation: Clin. Immunol. Publication Date: 2009 Jul |
Date Detail:
|
Created Date: 2009-06-08 Completed Date: 2009-07-08 Revised Date: 2010-09-27 |
Medline Journal Info:
|
Nlm Unique ID: 100883537 Medline TA: Clin Immunol Country: United States |
Other Details:
|
Languages: eng Pagination: 116-23 Citation Subset: IM |
Affiliation:
|
Division of Hematology/Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA. Rebecca.Marsh@cchmc.org |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Adult Child Child, Preschool DNA Mutational Analysis Flow Cytometry Humans Lymphoproliferative Disorders / blood, genetics, immunology* Mutation* Natural Killer T-Cells / cytology, immunology*, metabolism X-Linked Inhibitor of Apoptosis Protein / genetics* |
| Grant Support | |
ID/Acronym/Agency:
|
1R03AI079797-01/AI/NIAID NIH HHS; R03 AI079797-01/AI/NIAID NIH HHS |
| Chemical | |
Reg. No./Substance:
|
0/X-Linked Inhibitor of Apoptosis Protein; 0/XIAP protein, human |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A longitudinal study of quality of life in patients with chronic heart failure following an exercise...
Next Document: Monitoring immunosuppression with measures of NFAT decreases cancer incidence.