Article
Case Report: Compound heterozygous ITGB2 variants causing leukocyte adhesion deficiency type I With preserved CD18 expression.
Frontiers in immunology - 1 Jan 2026
Abdelbari Marwa, Ben Lamine Zeineb, Kebaili Raoudha, Ben Belgacem Hajer, Nesrine Jaballah, Mekki Najla, Ben-Mustapha Imen, Soyah Najla, Bouguila Jihene, Tej Amel, Boughammoura Lamia
Abstract excerpt
Introduction Leukocyte adhesion deficiency (LAD) type I is a well-recognized inborn error of immunity that typically presents in early childhood. However, cases with normal surface expression of adhesion molecules are rare and suggest that these molecules may be functionally impaired despite their preserved expression. Observation: We report the case of a 3-year-and-8-month-old female with a family history of LAD...
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