Article
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Clinical immunology (Orlando, Fla.) - 1 Dec 2015
Sanyal Mrinmoy, Morimoto Marie, Baradaran-Heravi Alireza, Choi Kunho, Kambham Neeraja, Jensen Kent, Dutt Suparna, Dionis-Petersen Kira Y, Liu Lan Xiang, Felix Katie, Mayfield Christy, Dekel Benjamin, Bokenkamp Arend, Fryssira Helen, Guillen-Navarro Encarna, Lama Giuliana, Brugnara Milena, Lücke Thomas, Olney Ann Haskins, Hunley Tracy E, Polat Ayse Ipek, Yis Uluc, Bogdanovic Radovan, Mitrovic Katarina, Berry Susan, Najera Lydia, Najafian Behzad, Gentile Mattia, Nur Semerci C, Tsimaratos Michel, Lewis David B, Boerkoel Cornelius F
Abstract excerpt
Schimke immuno-osseous dysplasia (SIOD) is an autosomal recessive, fatal childhood disorder associated with skeletal dysplasia, renal dysfunction, and T-cell immunodeficiency. This disease is linked to biallelic loss-of-function mutations of the SMARCAL1 gene. Although recurrent infection, due to T-cell deficiency, is a leading cause of morbidity and mortality, the etiology of the T-cell immunodeficiency is...
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