LAD1, ladinin 1, 3898

N. diseases: 87; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Leukocyte adhesion deficiency type 1
0.050 GeneticVariation disease BEFREE Leukocyte adhesion deficiency type 1 (LAD 1 - CD18 deficiency) is a rare disease characterized by disturbance of phagocyte function associated with less severe cellular and humoral dysfunction. 25106692 2014
Leukocyte adhesion deficiency type 1
0.050 GeneticVariation disease BEFREE Leukocyte adhesion deficiency type-1(LAD-1) is one of the immunodeficiency autosomal recessive diseases that results from mutation in integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) ITGB2 gene. 24338230 2014
Leukocyte adhesion deficiency type 1
0.050 Biomarker disease BEFREE Clinically, patients with LAD II suffer not only from a less severe form of infectious episodes resembling the moderate phenotype of LAD I but also from severe psychomotor and growth retardation. 19437145 2010
Leukocyte adhesion deficiency type 1
0.050 GeneticVariation disease BEFREE LAD I and variant LAD I syndromes are caused by mutations that impair expression or function of integrins of the beta 2 class (CD11/CD18 integrins, or "leukocyte" integrins). 11753075 2002
Leukocyte adhesion deficiency type 1
0.050 Biomarker disease BEFREE While in LAD I the integrin family is defective, in LAD II the selectin system is involved. 11213799 2000