KEGG   DISEASE: 白血球粘着不全症
エントリ  
H00099                                                             

名称    
白血球粘着不全症
概要    
Leukocyte adhesion deficiency (LAD) is a rare, autosomal recessive genetic disorder in which neutrophils fail to mobilize and migrate to sites of injury. At least three genetically distinct forms of this group of disorders have been described: LAD I, II, and III. Defects in the expression of beta2-integrins and fucose- containing proteins account for LAD-I and LAD-II, respectively. In LAD-III integrin expression by leukocytes is normal, but the integrins fail to generate high avidity for their cognate endothelial-cell ligands. Mutations in the KINDLIN3 (official symbol FERMT3), a gene that encodes an intracellular protein that interacts with cytoplasmic tails of beta-integrins in hematopoietic cells, is the cause of LAD-III. Dominant-negative mutations resulting in deficiency of ras-related C3 botulinum toxin substrate (Rac2), the predominant hematopoeitic-specific Rho GTPase in neutrophils also leads to leukocyte adhesion deficiency.
カテゴリ  
原発性免疫不全症候群
階層分類  
ヒト疾患 [BR:jp08402]
 免疫系疾患
  原発性免疫不全症候群
   H00099  白血球粘着不全症
関連パスウェイ
hsa04670  Leukocyte transendothelial migration
病因遺伝子 
ITGB2 [HSA:3689] [KO:K06464]
SLC35C1 [HSA:55343] [KO:K15279]
FERMT3 [HSA:83706] [KO:K17084]
RAC2 [HSA:5880] [KO:K07860]
リンク   
MeSH: C535887 C535755 C567555
OMIM: 116920 266265 612840 608203
文献    
  著者
Marodi L, Notarangelo LD.
  タイトル
Immunological and genetic bases of new primary immunodeficiencies.
  雑誌
Nat Rev Immunol 7:851-61 (2007)
DOI:10.1038/nri2195
文献    
  著者
Kumar A, Teuber SS, Gershwin ME.
  タイトル
Current perspectives on primary immunodeficiency diseases.
  雑誌
Clin Dev Immunol 13:223-59 (2006)
DOI:10.1080/17402520600800705
文献    
PMID:9737224
  著者
Ten RM.
  タイトル
Primary immunodeficiencies.
  雑誌
Mayo Clin Proc 73:865-72 (1998)
DOI:10.4065/73.9.865
文献    
  著者
Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.
  タイトル
Genetic diagnosis of primary immune deficiencies.
  雑誌
Immunol Allergy Clin North Am 28:387-412, x (2008)
DOI:10.1016/j.iac.2008.01.004
文献    
  著者
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.
  タイトル
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
  雑誌
J Allergy Clin Immunol 120:776-94 (2007)
DOI:10.1016/j.jaci.2007.08.053
文献    
  著者
Zimmerman GA
  タイトル
LAD syndromes: FERMT3 kindles the signal.
  雑誌
Blood 113:4485-6 (2009)
DOI:10.1182/blood-2009-01-198853
文献    
  著者
Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G, Gonzalez-Aller C, Hiester A, deBoer M, Harbeck RJ, Oyer R, Johnson GL, Roos D
  タイトル
Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation.
  雑誌
Proc Natl Acad Sci U S A 97:4654-9 (2000)
DOI:10.1073/pnas.080074897

» English version

DBGET integrated database retrieval system