KEGG   DISEASE: B細胞免疫不全症・周期性発熱および発達遅滞を伴う鉄芽球性貧血
エントリ  
H02670                                                             
名称    
B細胞免疫不全症・周期性発熱および発達遅滞を伴う鉄芽球性貧血
概要    
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a novel congenital sideroblastic anemia and immunodeficiency syndrome with additional features resembling a mitochondrial cytopathy. SIFD is caused by biallelic mutations in TRNT1, the gene encoding the CCA-adding enzyme essential for maturation of both nuclear and mitochondrial transfer RNAs.
カテゴリ  
血液疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 03 血液・造血器の疾患
  貧血または他の赤血球系疾患
   3A72  鉄芽球性貧血
    H02670  B細胞免疫不全症・周期性発熱および発達遅滞を伴う鉄芽球性貧血
病因遺伝子 
TRNT1 [HSA:51095] [KO:K00974]
リンク   
ICD-11: 3A72.01
OMIM: 616084
文献    
PMID:25193871
  著者
Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D, Campagna DR, Lau A, Sendamarai AK, Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Wynn RF, Laxer RM, Minniti CP, Moppett J, Bordon V, Geraghty M, Joyce PB, Markianos K, Rudner AD, Holcik M, Fleming MD
  タイトル
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).
  雑誌
Blood 124:2867-71 (2014)
DOI:10.1182/blood-2014-08-591370
文献    
PMID:23553769
  著者
Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM, Giardina PJ, Klaassen RJ, Chakraborty P, Geraghty MT, Major-Cook N, Kannengiesser C, Thuret I, Thompson AA, Marques L, Hughes S, Bonney DK, Bottomley SS, Fleming MD, Wynn RF
  タイトル
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).
  雑誌
Blood 122:112-23 (2013)
DOI:10.1182/blood-2012-08-439083
LinkDB    

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