LAD1, ladinin 1, 3898

N. diseases: 87; N. variants: 2
Disease: Congenital leukocyte adherence deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE Disabling mutations in integrin-mediated cell signaling have been a major focus of interest over the last decade for patients affected with leukocyte adhesion deficiency-III (LAD-III). 25854317 2015
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE Leukocyte adhesion deficiency 1 (LAD-1) is caused by defects in the β2 integrin subunit. 25514840 2015
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE Kindlin-3 is a novel integrin activator in hematopoietic cells, and its deficiency leads to immune problems and severe bleeding, known as leukocyte adhesion deficiency III (LAD-III). 22564402 2012
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE Kindlin-3 is a key lymphocyte function-associated antigen-1 (LFA-1) coactivator deleted in leukocyte adhesion deficiency-III (LAD-III). 21536861 2011
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE Leukocyte adhesion deficiency 1 (LAD1) is an inherited disorder of neutrophil function. 21103413 2010
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3. 20216991 2010
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE In the disorder leukocyte adhesion deficiency III (LAD-III), integrins on platelets and leukocytes are expressed but fail to function and this leads to severe bleeding and infections at an early age. 20357244 2010
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE These symptoms are consistent with but more severe than those reported for people with leukocyte adhesion deficiency III (LAD-III). 19234460 2009
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE Leukocyte adhesion deficiency II (LAD II) belongs to a group of human congenital diseases in which the interactions of leukocytes with the vascular endothelium are strongly impaired. 16956371 2006
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE Leukocyte adhesion deficiency II (LAD II) is a rare congenital disease caused by defective fucosylation leading to immuno-deficiency and psychomotor retardation. 16455955 2006
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE Leukocyte adhesion deficiency II (LAD II) is a rare congenital disease which is caused by a defect in fucosylation of glycoconjugates. 12476046 2002
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE Leukocyte adhesion deficiency II (LAD II) is characterized by the lack of fucosylated glycoconjugates, including selectin ligands, causing immunodeficiency and severe mental and growth retardation. 11326279 2001
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE Leukocyte adhesion deficiency-1 (LAD-1) is the result of mutations in the beta2 subunit of the CD11/CD18 integrins, LFA-1, Mac-1, p150,95 and alphadbeta2. 10936446 2000
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 GeneticVariation disease BEFREE Neutrophils isolated from a child with severe leukocyte adhesion deficiency 1 (LAD1) had a complete absence of expression of the CD11/CD18 beta2 integrin family of adhesion molecules, and were shown to be deficient in the in vitro adhesion and migration properties. 10564719 2000
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		0.100 Biomarker disease BEFREE Leukocyte adhesion deficiency or LAD is a congenital immunodeficiency disease characterized by recurrent bacterial infections in which the leukocytes from affected children fail to adhere to endothelial cells and migrate to the site of infection due to heterogeneous defects in the leukocyte integrin CD18 subunit. 9473215 1998