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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