Journal
CLINICAL IMMUNOLOGY
Volume 132, Issue 1, Pages 116-123Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.clim.2009.03.517
Keywords
X-linked lymphoproliferative disease; XLP; XLP2; Invariant natural killer T cells; iNKT cells; BIRC4 X-linked Inhibitor of Apoptosis; XIAP
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Funding
- Histiocytosis Association of America
- NIH [R03 1R03AI079797-01]
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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 TCRV alpha 24 and TCRV beta 11 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. (C) 2009 Elsevier Inc. All rights reserved.
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