Article
Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome.
International immunology - 12 Apr 2020
Niitsuma Sou, Kudo Hiroki, Kikuchi Atsuo, Hayashi Takaya, Kumakura Satoshi, Kobayashi Shuhei, Okuyama Yuko, Kumagai Naonori, Niihori Tetsuya, Aoki Yoko, So Takanori, Funayama Ryo, Nakayama Keiko, Shirota Matsuyuki, Kondo Shuji, Kagami Shoji, Tsukaguchi Hiroyasu, Iijima Kazumoto, Kure Shigeo, Ishii Naoto
Abstract excerpt
Nephrotic syndrome (NS) is a renal disease characterized by severe proteinuria and hypoproteinemia. Although several single-gene mutations have been associated with steroid-resistant NS, causative genes for steroid-sensitive NS (SSNS) have not been clarified. While seeking to identify causative genes associated with SSNS by whole-exome sequencing, we found compound heterozygous variants/mutations (c.524T>C;...
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