Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, inherited immunodeficiency that affects 1 in 1 million people yearly and usually presents with recurrent, indolent
bacterial infections of the skin, mouth, and respiratory tract and impaired
pus formation and wound healing. Features of this disease result from mutations in the region of the CD18 gene, which is encoded on chromosome 21q22.3. This gene codes for the common subunit of the leukocyte
integrins LFA-1, Mac 1, and p150,95. Failure to produce a functional subunit results in the defective expression of all 3 leukocyte
integrins, and the leukocytes of LAD have subnormal adhesion properties. We present a case of the moderate-to-severe form of LAD in a 3-year-old girl who initially presented with generalized swelling and
erythema of the gingiva, with slight
tooth mobility and a nonhealing labial ulceration. Her medical history was significant for recurrent
urinary tract infections. Periodontal pathogens, including Capnocytophaga, Eikenella corrodens, and Candida albicans, were cultured. The patient had a significantly elevated white blood cell count and absolute neutrophil count. The diagnosis of LAD was confirmed with flow cytometry, which revealed significantly decreased subunits. Twenty-four months after the diagnosis was made and after a series of granulocyte transfusions and bone marrow
transplantations, she expired as the result of
respiratory failure.