Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder caused by defect in expression or function of CD18, a β2 subunit of integrins expressed on surface of neutrophils. This is characterized by early onset recurrent, life- threatening bacterial infections associated with who do not receive hematopoietic stem cell transplant.
Clinical and laboratory features of cases of LAD diagnosed single tertiary centre were retrieved and analysed. Twenty one children amongst these were diagnosed to have LAD type 1. Clinical details and laboratory investigations were analyzed. Diagnosis of LAD 1 was made on basis CD18 expression by flow cytometry.
Mean age of presentation of LAD was 3.3 years (20 days – 15 years), (11 boys, 10 girls). Delayed cord fall (beyond day 15) was noted in 9, while omphalitis was present in 12 patients. Five had history of consanguinity. Two had amyloidosis and Budd-Chiari syndrome respectively. One patient had pyoderma gangrenosum, which was treated immunosuppresents. One patient presented with palatal perforation at the age of 1 month. One patient had umbilical-enteric fistula with non healing ulcers over abdomen. Mean percentage of gated neutrophils showing CD18 was markedly decreased in patients 0.76% (0-0.96%) compared to controls 96.1-100%. Genetic mutation in ITGB2 gene was confirmed in 14 patients. Of these 14 patients, 4 had p.Arg624Ter variant. Fifteen of these children have succumbed to infections, one is doing well on post HSCT.
Children with LAD have a high mortality in resource-limited settings in absence of readily available facilities for HSCT.