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

Ponpan Matangkasombut, Muriel Pichavant, Doris E. Saez, Silvia Giliani, Evelina Mazzolari, Andrea Finocchi, Anna Villa, Cristina Sobacchi, Patricia Cortes, Dale T. Umetsu, Luigi D. Notarangelo

Research output: Contribution to journalArticlepeer-review

26 Scopus citations

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.

Original languageEnglish
Pages (from-to)271-274
Number of pages4
JournalBlood
Volume111
Issue number1
DOIs
StatePublished - 1 Jan 2008

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