Leukocyte adhesion deficiency type 1 with normal expression of CD 11a, CD11b and CD11c

Abstract

Leukocyte Adhesion Deficiency Type I (LAD-I) is a rare autosomal recessive disorder resulting from ITGB2 gene mutations on long arm of chromosome 21. This mutation disrupts leukocyte migration, causing impaired wound healing, recurrent infections, periodontitis, delayed umbilical cord separation and neutrophilic leukocytosis. Diagnosis involves flow cytometry to assess CD18, CD11a, CD11b, and CD11c surface expression, along with gene mutation analysis. Early detection and management are crucial for those with LAD-I. Here, we present a case of 11 years old male child with recurrent skin infections and diagnosed with rare phenotype of LAD-1 with normal expression of CD11a, CD11b and CD11c. This case improved our understanding of the mild and delayed presentation of Leukocyte Adhesion Deficiency Type 1 (LAD-I) with variable CD marker expression. It highlights the value of using flow cytometry methods to diagnose inborn errors of immunity, highlighting the need for continued study and increased awareness in this area. Increased knowledge of the various phenotypic expressions of LAD-I among medical professionals and researchers could facilitate prompt diagnosis and treatment, ultimately leading to better outcome and improved quality of life in patients.

Keywords: Adhesion molecules, Flow-cytometric analysis, Integrins, Leukocyte adhesion deficiency, Molecular analysis