leukocyte adhesion deficiency
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:immunodeficiency_disorder
|
| gptkbp:abbreviation |
gptkb:LAD
|
| gptkbp:affects |
immune system
|
| gptkbp:causedBy |
genetic mutations
mutations in FERMT3 gene mutations in ITGB2 gene |
| gptkbp:characterizedBy |
defective leukocyte adhesion
|
| gptkbp:diagnosedBy |
genetic testing
flow cytometry |
| gptkbp:firstDescribed |
1979
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:prevalence |
gptkb:rare_disease
|
| gptkbp:subspecies |
LAD type 1
LAD type 2 LAD type 3 |
| gptkbp:symptom |
impaired wound healing
recurrent bacterial infections delayed umbilical cord separation |
| gptkbp:treatment |
antibiotics
hematopoietic stem cell transplantation |
| gptkbp:bfsParent |
gptkb:ITGA4
gptkb:LFA-1 gptkb:CD18 |
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
leukocyte adhesion deficiency
|