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XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S. Rigaud S, et al. Among authors: revy p. Nature. 2006 Nov 2;444(7115):110-4. doi: 10.1038/nature05257. Nature. 2006. PMID: 17080092
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.
Berardinelli F, di Masi A, Salvatore M, Banerjee S, Myung K, De Villartay JP, Revy P, Plebani A, Soresina A, Taruscio D, Tanzarella C, Antoccia A. Berardinelli F, et al. Among authors: revy p. Eur J Med Genet. 2007 May-Jun;50(3):176-87. doi: 10.1016/j.ejmg.2007.01.006. Epub 2007 Feb 21. Eur J Med Genet. 2007. PMID: 17395558
104 results