エントリ 名称 Roifman-Chitayat 症候群
概要 Roifman-Chitayat syndrome (ROCHIS) is a combined immunodeficiency, characterized by facial dysmorphism, optic nerve atrophy, skeletal anomalies, myoclonic seizures, and substantial developmental delays. It has been reported that dual loss of PIK3CD and KNSTRN expression causes this syndrome.
カテゴリ 免疫系疾患
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ] BRITE hierarchy パスウェイ hsa04662 B cell receptor signaling pathway
ネットワーク nt06515 Regulation of kinetochore-microtubule interactions
nt06537 TCR/BCR signaling
病因遺伝子 リンク 文献 著者 Roifman CM, Chitayat D
タイトル Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome.
雑誌 文献 著者 Sharfe N, Karanxha A, Dadi H, Merico D, Chitayat D, Herbrick JA, Freeman S, Grinstein S, Roifman CM
タイトル Dual loss of p110delta PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.
雑誌 LinkDB All DBs
