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Blood. 2008 Jan 1;111(1):271-4. Epub 2007 Sep 21.

Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.

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1
Division of Immunology, Children's Hospital Boston, Harvard Medical School, Boston, MA, USA.

Abstract

Hypomorphic mutations of the RAG genes in humans are associated with a spectrum of clinical and immunologic presentations that range from T(-) B(-) severe combined immune deficiency (SCID) to Omenn syndrome. In most cases, residual V(D)J recombination activity allows for development of few T-cell clones, which expand in the periphery and infiltrate target organs, resulting in tissue damage. Invariant natural killer T (iNKT) cells play an important immunoregulatory role and have been associated with protection against autoimmunity. We now report on 5 unrelated cases of combined immune deficiency due to hypomorphic RAG mutations, and demonstrate the absence of iNKT cells in all 5 patients. These findings suggest that lack of this important immunoregulatory cell population may contribute to the pathophysiology of Omenn syndrome.

PMID:
17890453
PMCID:
PMC2200812
DOI:
10.1182/blood-2007-06-096487
[Indexed for MEDLINE]
Free PMC Article
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