GENETICALLY CONFIRMED TYPE I LEUKOCYTE ADHESION DEFICIENCY IN A TWO-YEAR-OLD MALE

Abstract

<h3>Introduction</h3> Leukocyte adhesion deficiency (LAD) type 1 affects about one in a million people world-wide. Presentation typically includes delayed separation of the umbilical cord, neutrophilia, and repeated bacterial infections soon after birth. Here we present a case of a 2-year-old male who presented in respiratory failure later found to have genetically confirmed type 1 LAD. <h3>Case Description</h3> A 2-year-old male in state custody presented to an outside hospital with fever and respiratory distress secondary to croup. Hospital course was complicated by right vocal cord avulsion likely secondary to trauma, difficulty in extubation requiring steroids and tracheostomy, persistent leukocytosis with neutrophilia, and reccuring fevers. He was transferred to our hospital after CD18/CDb11 expression was found to be 0%. We sent primary immunodeficiency genetic testing confirming a pathogenic variant in ITGB2 and 22q22.3 pathogenic deletion which included ITGB2, AIRE and ICOSLG. <h3>Discussion</h3> When given an unclassical and convoluted history, relying on more objective data like laboratory results and physical exam is crucial. Our case was challenging due to a complex social situation making obtaining a good history difficult and inability to examine the patient on initial consultation. History revealed insignificant infection history and no delayed separation of the umbilical cord. Therefore, before being able to examine the patient and obtain genetic testing there was some skepticism of the diagnosis despite supporting flow cytometry. Once the patient arrived at our facility, physical exam revealed wound healing characteristic of LAD, increasing suspicion of the disease. Genetic testing confirmed LAD, as he was hemizygous for a pathogenic variant in ITGB2.