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CD18 deficiency

MIM.600065 21q22.3

Tuesday 18 October 2005

Autosomal recessive disorder - Leukocyte adhesion deficiency type 1.

Synopsis

 recurrent bacterial infections
 impaired pus formation
 impaired wound healing
 abnormal adhesion-dependent functions of granulocytes, monocytes, and lymphocytes
 infection of umbilical cord stump
 omphalitis
 gingivitis (periodontosis)

Associations

 systemic juvenile rheumatoid arthritis

Biology

 leukocyte cell adhesion molecule defect
 reduced neutrophil phagocytic and respiratory burst
 response to bacteria and yeast
 reduced adherance to various substances
 reduced migration into infection sites