Leukocyte Adhesion Deficiency in a 42-Day-Old Infant: A Case Report

42日龄婴儿白细胞黏附缺陷:病例报告

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Abstract

Leukocyte Adhesion Deficiency (LAD) is a rare primary immunodeficiency characterized by impaired leukocyte adhesion and migration, resulting in recurrent bacterial infections, poor wound healing, and delayed umbilical cord separation. We report a 42-day-old female infant who presented with recurrent skin infections and delayed cord detachment in the absence of fever and purulent discharge. Flow cytometry showed markedly reduced CD18 expression (1.8%), and genetic analysis confirmed a homozygous ITGB2 mutation (c.844C>T; p.Arg282Trp), consistent with LAD Type I. Neutrophil oxidative burst was normal, excluding chronic granulomatous disease. Early diagnosis allowed timely initiation of prophylactic antibiotics and close follow-up to prevent complications. This case emphasizes the diagnostic importance of recognizing infection without pus and delayed umbilical separation as hallmark features of LAD.

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