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.
Matangkasombut P., Pichavant M., Saez D.E., Giliani S., Mazzolari E., Finocchi A., et al. (2008). Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations. BLOOD, 111(1), 271-274.
Tipologia: | Articolo su rivista |
Citazione: | Matangkasombut P., Pichavant M., Saez D.E., Giliani S., Mazzolari E., Finocchi A., et al. (2008). Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations. BLOOD, 111(1), 271-274. |
IF: | Con Impact Factor ISI |
Lingua: | English |
Settore Scientifico Disciplinare: | Settore MED/38 - Pediatria Generale e Specialistica |
Revisione (peer review): | Sì, ma tipo non specificato |
Tipo: | Articolo |
Rilevanza: | Rilevanza internazionale |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1182/blood-2007-06-096487 |
Stato di pubblicazione: | Pubblicato |
Data di pubblicazione: | 1-gen-2008 |
Titolo: | Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations |
Autori: | |
Autori: | Matangkasombut P.; Pichavant M.; Saez D.E.; Giliani S.; Mazzolari E.; Finocchi A.; Villa A.; Sobacchi C.; Cortes P.; Umetsu D.T.; Notarangelo L.D. |
Appare nelle tipologie: | 01 - Articolo su rivista |