Unusual Neonatal Presentation of Type I Leukocyte Adhesion Deficiency (LAD 1)
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Date
2025-02
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Akshantala Enterprises Private Limited
Abstract
Leukocyte adhesion deficiency is a type of primary immunodeficiency syndrome with fatal forms of recurrent episodes of infection since the neonatal period. This is a very rare disease. Diagnosis is usually made in childhood but can be diagnosed in the early days of the neonatal period, which helps in starting early treatment with excellent results. Neonatologists should have a very high index of suspicion to diagnose this condition in neonates. The condition may mimic serious bacterial infections with a leukemoid reaction. About 1 in 1 million people are affected worldwide, which shows it’s a rare occurrence. There are few reported cases of LAD-I in newborns’. In LAD 1 (Leukocyte Adhesion Deficiency Type 1), steady adhesion of leukocytes to endothelial surfaces is defective with the following major immunological features.[1] 1. Inability to form pus 2. Deficiency of various glycoproteins like LFA-1/Mac-1, involved in cellular adhesion 3. Inability of leukocytes to migrate to the site of infection to kill offending microbes. The main adhesion glycoprotein involved is CD18. 4. Due to the absence of these adhesion molecules, inflammatory response is not sufficient to restrict or kill microorganisms, which eventually leads to recurrent bacterial infections. • Inheritance pattern of LAD 1 is autosomal recessive.[2] • Both B-cells and T-cells are affected. • Worldwide very few cases in neonates are reported. Main striking characteristics of LAD 1 are “delayed separation of umbilical cord at birth, persistent leukocytosis, and recurrent bacterial and fungal infections involving skin and mucosa and poor wound healing.” In our case of LAD-1 in a neonate, there was normal separation of the umbilical cord with no clinical signs of omphalitis.
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Rathour JS, Muthukumaran N.. Unusual Neonatal Presentation of Type I Leukocyte Adhesion Deficiency (LAD 1) . Journal of Evolution of Medical and Dental Sciences. 2025 Feb; 14(1): 14-16