KEGG   DISEASE: 消化管異常および免疫不全症候群
エントリ  
H02331                                                             
名称    
消化管異常および免疫不全症候群;
多発性小腸閉鎖症を伴う複合免疫不全症
概要    
Gastrointestinal defects and immunodeficiency syndrome (GIDID) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. It has been suggested that TTC7A gene defects cause this disease.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   消化管の構造的発達異常
    LB1Y  その他の明示された消化管の構造的発達異常
     H02331  消化管異常および免疫不全症候群
病因遺伝子 
(GIDID1) TTC7A [HSA:57217] [KO:K21843]
(GIDID2) PI4KA [HSA:5297] [KO:K00888]
リンク   
ICD-11: LB1Y
OMIM: 243150 619708
文献    
  著者
Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM
  タイトル
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
  雑誌
Gastroenterology 146:1028-39 (2014)
DOI:10.1053/j.gastro.2014.01.015
文献    
PMID:23830146 (GIDID1)
  著者
Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD
  タイトル
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
  雑誌
J Allergy Clin Immunol 132:656-664.e17 (2013)
DOI:10.1016/j.jaci.2013.06.013
文献    
PMID:34415310 (GIDID2)
  著者
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla MP, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Ward Melver C, Cox H, Elawad M, Marton T, Wakeling MN, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Walsh Vockley C, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI, Baple EL
  タイトル
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
  雑誌
Brain 144:3597-3610 (2021)
DOI:10.1093/brain/awab313
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