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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]
- Inability to form pus
- Deficiency of various glycoproteins like LFA-1/Mac-1, involved in cellular adhesion
- Inability of leukocytes to migrate to the site of infection to kill offending microbes. The main adhesion glycoprotein involved is CD18.
- 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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References
- Hanna S, Etzioni A. Leukocyte adhesion deficiencies. Ann N Y Acad Sci 2012;1250(1):50-5.
- Niethammer D, Dieterle U, Kleihauer E, et al. An inherited defect in granulocyte function: impaired chemotaxis, phagocytosis and intracellular killing of microorganisms. Helv Paediatr Acta 1976;30(6):537-41.
- Justiz Valliant AA, Ahmad F. Leucocyte adhesion defect. Treasure Island (FL): StatPearls Publishing 2025.
- CDC guidelines on vaccination. https://www.cdc.gov/vaccines/hcp/imz-best-practices/altered-immunocompetence
- Stepensky PY, Wolach B, Gavrieli R, et al. Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation. J Pediatr Hematol Oncol 2015;37(4):264-8.
- Parvaneh N, Mamishi S, Rezaei A, et al. Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene. J Clin Immunol 2010;30(5):756-60.
- Cox DP, Weathers DR. Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. A case report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008;105(1):86-90.
- Movahedi M, Entezari N, Pourpak Z, et al. Clinical and laboratory findings in Iranian patients with leukocyte adhesion deficiency (study of 15 cases).J Clin Immunol 2007;27(3):302-7.
- Novoa EA, Kasbekar S, Thrasher AJ, et al. Leukocyte adhesion deficiency-I: a comprehensive review of all published cases. J Allergy Clin Immunol Pract 2018;6(4):1418-20.
- Jothilakshmi K, Priya S, Matthai J. Leucocyte Adhesion Defect--1. Indian Pediatrics 2008;45(6):507-9.
- Bakhtiar S, Salzmann-Manrique E, Blok HJ, et al. Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III. Blood Advances 2021;5(1):262-73.
References
Hanna S, Etzioni A. Leukocyte adhesion deficiencies. Ann N Y Acad Sci 2012;1250(1):50-5.
Niethammer D, Dieterle U, Kleihauer E, et al. An inherited defect in granulocyte function: impaired chemotaxis, phagocytosis and intracellular killing of microorganisms. Helv Paediatr Acta 1976;30(6):537-41.
Justiz Valliant AA, Ahmad F. Leucocyte adhesion defect. Treasure Island (FL): StatPearls Publishing 2025.
CDC guidelines on vaccination. https://www.cdc.gov/vaccines/hcp/imz-best-practices/altered-immunocompetence
Stepensky PY, Wolach B, Gavrieli R, et al. Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation. J Pediatr Hematol Oncol 2015;37(4):264-8.
Parvaneh N, Mamishi S, Rezaei A, et al. Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene. J Clin Immunol 2010;30(5):756-60.
Cox DP, Weathers DR. Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. A case report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008;105(1):86-90.
Movahedi M, Entezari N, Pourpak Z, et al. Clinical and laboratory findings in Iranian patients with leukocyte adhesion deficiency (study of 15 cases).J Clin Immunol 2007;27(3):302-7.
Novoa EA, Kasbekar S, Thrasher AJ, et al. Leukocyte adhesion deficiency-I: a comprehensive review of all published cases. J Allergy Clin Immunol Pract 2018;6(4):1418-20.
Jothilakshmi K, Priya S, Matthai J. Leucocyte Adhesion Defect--1. Indian Pediatrics 2008;45(6):507-9.
Bakhtiar S, Salzmann-Manrique E, Blok HJ, et al. Allogeneic hematopoietic stem cell transplantation in leukocyte adhesion deficiency type I and III. Blood Advances 2021;5(1):262-73.