LAD

Question 1

Key Clinical Clues for Leukocyte Adhesion Deficiency (LAD)

Answer 1

Recurrent bacterial skin & mucosal infections

Absent pus despite severe infection

Leukocytosis with neutrophilia

Delayed >30 days after birth

Question 2

What is the genetic mutation responsible for Leukocyte Adhesion Deficiency (LAD)?

Answer 2

Mutation in CD18, part of the β2-integrin complex, impairing neutrophil adhesion and migration.

Question 3

What is the triad of clinical features in Leukocyte Adhesion Deficiency (LAD)?

Answer 3

Delayed separation of the umbilical cord
(>30 days)

Recurrent skin and mucosal bacterial infections
(gingivitis, periodontitis, abscesses)

Leukocytosis with neutrophilia
(because neutrophils cannot leave the bloodstream)

Question 4

How is Leukocyte Adhesion Deficiency (LAD) diagnosed?

Answer 4

Flow cytometry for absence of CD18.

Leukocytosis with neutrophilia.

Biopsy of infected tissue shows absence of inflammatory cells.

Question 5

What infections are common in Leukocyte Adhesion Deficiency (LAD)?

Answer 5

Recurrent bacterial infections, often due to Staphylococcus aureus and Gram-negative bacteria, without the formation of pus.

Question 6

What treatment is used for Leukocyte Adhesion Deficiency (LAD)?

Answer 6

Prophylactic antibiotics to prevent infections.

Bone marrow transplant in severe cases.