A patient with a hereditary leukocyte adhesion deficiency (LAD) may present with a number of findings that may suggest the diagnosis.


Key pathogenic feature: neutrophils are functionally unable to migrate to the site of infection


Clinical findings:

(1) delayed separation of the umbilical cord in the newborn infant

(2) poor wound healing

(3) recurrent infections with pyogenic bacteria (Staphylococcus sp., Streptococcus sp, Gram-negative bacteria) or fungi, usually starting in early childhood

(4) colitis in severely affected patients


Types of infections:

(1) recurrent soft tissue infections (cellulitis, necrotizing or ulcerating infections)

(2) severe periodontal disease

(3) unexplained Candida infections (esophagitis, pneumonia, skin infection)

(4) recurrent otitis media

(5) recurrent pneumonia

(6) spontaneous peritonitis

(7) recurrent episodes of unexplained sepsis


Laboratory and histologic findings:

(1) persistent leukoctyosis (>= 20,000 per µL) without evidence for a leukemic, myeloproliferative or myelodysplastic disorder

(2) scant neutrophils at the site of infection


The differential diagnosis is an acquired form of leukocyte adhesion deficiency, which would not problems starting in early childhood.


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