Svensk definition
Sällsynt, autosomalt recessiv sjukdom orsakad av defekt hos beta 2-integrinreceptorerna ( leukocytadhesionsreceptorer), som omfattar CD11/CD18-familjen av glykoproteiner. Syndromet kännetecknas av onormala adhesionsberoende funktioner, särskilt defekt neutrofilspridning i vävnad, vilket leder till återkommande infektioner.
Engelsk definition
Rare, autosomal recessive disorder caused by deficiency of the beta 2 integrin receptors (RECEPTORS, LEUKOCYTE-ADHESION) comprising the CD11/CD18 family of glycoproteins. The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Leukocyte Adhesion Deficiency Syndrome — Deficiency Syndrome, Leukocyte-Adhesion — Deficiency Syndrome, Leukocyte Adhesion — Leukocyte-Adhesion Deficiency Syndromes