Monosomy 1p36 uncovers a role for OX40 in survival of activated CD4+ T cells

M. M. Suhoski, E. E. Perez, M. L. Heltzer, A. Laney, L. G. Shaffer, S. Saitta, S. Nachman, N. B. Spinner, C. H. June, J. S. Orange

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Monosomy 1p36 is a subtelomeric deletion syndrome associated with congenital anomalies presumably due to haploinsufficiency of multiple genes. Although immunodeficiency has not been reported, genes encoding costimulatory molecules of the TNF receptor superfamily (TNFRSF) are within 1p36 and may be affected. In one patient with monosomy 1p36, comparative genome hybridization and fluorescence in- situ hybridization confirmed that TNFRSF member OX40 was included within the subtelomeric deletion. T cells from this patient had decreased OX40 expression after stimulation. Specific, ex vivo T cell activation through OX40 revealed enhanced proliferation, and reduced viability of patient CD4+ T cells, providing evidence for the association of monosomy 1p36 with reduced OX40 expression, and decreased OX40-induced T cell survival. These results support a role for OX40 in human immunity, and calls attention to the potential for haploinsufficiency deletions of TNFRSF costimulatory molecules in monosomy 1p36.

Original languageEnglish (US)
Pages (from-to)181-189
Number of pages9
JournalClinical Immunology
Issue number2
StatePublished - Aug 2008


  • 1p36
  • 4-1BB
  • OX40
  • Primary immunodeficiency
  • Subtelomeric deletion
  • T cell memory
  • TNFRSF superfamily

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy


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