leukocyte adhesion deficiency-2

Pathology

• impaired phagocyte rolling along endothelium

Genetics

autosomal recessive

Clinical manifestations

• severe mental retardation
• short stature
• recurrent infections
• periodontal disease

Laboratory

• Bombay (hh) blood phenotype
• granulocytosis
• reduced phagocyte expression of sialyl-Lewis, using monoclonal antibodies against CD15s
• see ARUP consult

More general terms

• leukocyte adhesion deficiency

More specific terms

• congenital disorder of glycosylation type 2C (CDG2C);

Additional terms

• Bombay phenotype
• Lewis blood group locus