Leukocyte adhesion deficiency (LAD) is a defect of cellular adhesion molecules with deficiency of various glycoproteins including LFA-1 resulting in a combined immunodeficiency disorder with recurrent bacterial and fungal infections. The aim of our study is to describe LAD’s clinical features.
From 1998 through 2018, 18 patients (from 12 families and 11 consanguineous marriage) were enrolled. Each of them had a severe (<1%: n=15) or moderate (1-30%: n=3) decreased expression of LFA-1 and benefited from chemoprophylaxis with Cotrimoxazole and Itraconazole. Clinical data was retrospectively analyzed.
Sex ratio was 0,8. Mean age was 29 days [2;180] at first symptoms and 7,6 years [0,16;31] at diagnosis. First signs included delayed separation of the umbilical cord (n=13), omphalitis (n=12), oral thrush (n=11) and sepsis (n=10). The most common infections were recurrent skin infections (n=16), ENT infections (n=7), pneumonia (n=7), urinary tract infections (n=5) and gastrointestinal infections (n=5). The main infectious agents were enterobacteriaceae (n=10), staphylococcus (n=9), pseudomonas aeruginosa (n=9), candida (n=5) and corynebacterium (n=4). All patients had marked neutrophilic leukocytosis with mean neutrophilis count at 46323 cells/mm3. Four patients were lost to follow-up. Issue was fatal in 7 cases (mean age at death= 6,5 years). Five patients had allogeneic hematopoietic stem cell transplant (HSCT), 2 of whom were cured.
LAD is usually fatal before 2 years of age. Moderate cases can live longer with appropriate antimicrobial therapy. Those patients with successful HSCT can have a better quality of life.