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C154615Level 9

Leukocyte Adhesion Deficiency Type 3

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the FERMT3 gene, encoding fermitin family homolog 3. It is characterized by a defect in activation of all beta integrins. It manifests clinically as severe infections with marked leukocytosis, accompanied by life-threatening bleeding episodes.

**Synonyms:** - LAD-3 - LAD-III

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