KEGG   DISEASE: 異化亢進性低タンパク血症
エントリ  
H01303                                                             
名称    
異化亢進性低タンパク血症;
免疫不全 43
  上位グループ
MHCクラスI欠損症 [DS:H00984]
複合免疫不全症 [DS:H00093]
獲得免疫の障害 [DS:H02526]
原発性免疫不全症 [DS:H01725]
概要    
Hypercatabolic hypoproteinemia is a disorder of endogenous catabolism of albumin and immunoglobulin. FcRn is a heterodimeric receptor composed of a nonclassical MHC class I alpha-chain and beta-2-microglobulin (B2M) that binds two ligands, IgG and albumin. It has been suggested that a mutation in B2M gene causes this disease.
カテゴリ  
血液疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 04 免疫系の疾患
  原発性免疫不全症
   4A01  獲得免疫の疾患よる原発性免疫不全症
    H01303  異化亢進性低タンパク血症
パスウェイ 
hsa04612  Antigen processing and presentation
病因遺伝子 
B2M [HSA:567] [KO:K08055]
リンク   
ICD-11: 4A01.11
ICD-10: D81.6
OMIM: 241600
文献    
  著者
Wani MA, Haynes LD, Kim J, Bronson CL, Chaudhury C, Mohanty S, Waldmann TA, Robinson JM, Anderson CL
  タイトル
Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene.
  雑誌
Proc Natl Acad Sci U S A 103:5084-9 (2006)
DOI:10.1073/pnas.0600548103
文献    
PMID:2254461
  著者
Waldmann TA, Terry WD
  タイトル
Familial hypercatabolic hypoproteinemia. A disorder of endogenous catabolism of albumin and immunoglobulin.
  雑誌
J Clin Invest 86:2093-8 (1990)
DOI:10.1172/JCI114947
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