{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T04:12:20Z","timestamp":1789963940905,"version":"4.0.1"},"reference-count":19,"publisher":"American Academy of Pediatrics (AAP)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,1,1]]},"abstract":"<jats:p>Leukocyte adhesion deficiency (LAD) I is a well-described genetic disorder in which leukocytes are unable to migrate to sites of inflammation due to mutations in the ITGB2 gene coding for the \u03b2 subunit of \u03b22 (CD18) leukocyte integrins. The classic symptoms of the disease present in the newborn period as failure of separation of the umbilical cord and recurrent bacterial infections, which continue throughout life. We report on a patient with these clinical manifestations but with normal ITGB2 gene sequencing excluding LAD-I, normal carbohydrate-deficient transferrin testing excluding LAD-II, and normal platelet function excluding LAD-III. With testing for CD18 integrin function by flow cytometry, adhesion assay analysis, and time-lapse microscopy, we found the patient\u2019s T lymphocytes to express normal levels of \u03b21 and \u03b22 integrins but to be highly adhesive to integrin ligands and to display decreased migration compared with control T lymphocytes. The hyperadhesiveness of the cells suggests that they might be prevented from reaching infected tissues. Interestingly, administration of glucocorticoids, for the patient\u2019s nephrotic syndrome, alleviated the patient\u2019s chronic diarrhea and decreased the incidence of skin infections. The hyperadhesiveness rather than adhesion deficiency of the patient\u2019s leukocytes suggests that a novel lesion in a pathway regulating integrin adhesion is responsible for the patient\u2019s unique LAD-I\u2013like symptoms.<\/jats:p>","DOI":"10.1542\/peds.2013-0884","type":"journal-article","created":{"date-parts":[[2013,12,17]],"date-time":"2013-12-17T02:49:42Z","timestamp":1387248582000},"page":"e257-e262","source":"Crossref","is-referenced-by-count":7,"title":["A New Leukocyte Hyperadhesion Syndrome of Delayed Cord Separation, Skin Infection, and Nephrosis"],"prefix":"10.1542","volume":"133","author":[{"given":"Brittany N.","family":"Simpson","sequence":"first","affiliation":[{"name":"School of Medicine,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Hogg","sequence":"additional","affiliation":[{"name":"Leukocyte Adhesion Laboratory, London Research Institute, Cancer Research UK, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lena M.","family":"Svensson","sequence":"additional","affiliation":[{"name":"Leukocyte Adhesion Laboratory, London Research Institute, Cancer Research UK, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"McDowall","sequence":"additional","affiliation":[{"name":"Leukocyte Adhesion Laboratory, London Research Institute, Cancer Research UK, London, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Daley","sequence":"additional","affiliation":[{"name":"Department of Pathology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kilby","family":"Yarbrough","sequence":"additional","affiliation":[{"name":"School of Medicine,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar A.","family":"Abdul-Rahman","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, 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