{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T14:57:15Z","timestamp":1761058635689},"reference-count":35,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,11,17]],"date-time":"2005-11-17T00:00:00Z","timestamp":1132185600000},"content-version":"vor","delay-in-days":3914,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Immunol"],"published-print":{"date-parts":[[1995,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Leukocyte adhesion deficiency (LAD) is caused by defects in the CD18 gene, which codes for the common \u03b22 subunit of the leukocyte integrins LFA\u20101, Mac\u20101 and p150,95. Failure to produce a functional \u03b22 subunit results in the defective expression of all three leukocyte integrins, and the leukocytes of LAD patients have subnormal adhesion properties. Six patients with LAD were studied. Patient B was homozygous and carried a G284S mutation. A two\u2010bp (<jats:italic>GA<\/jats:italic>) deletion at position <jats:italic>1256 (1256\u0394GA)<\/jats:italic> was found in the cDNA of patient C, who also had an abnormally large mRNA of 4.3 kb. Patients E and K were siblings and were heterozygous at the genomic level. One defective allele contained a mutation in intron 6\/7 which created a preemptive 3\u2032 splice site. The resulting mRNA has 12 extra bases at the junction of exons 6 and 7, coding for four extra residues PSSQ in the protein. The same allele also carried a R586W mutation. The other allele was transcribed at a low level and was not characterized. Patient G carried a L149P mutation in one allele; again, the other allele was not characterized due to low transcription levels. Patient R carried two mutant alleles with G284S and R593C mutations respectively. The G284S mutation and the <jats:italic>1256\u0394GA<\/jats:italic> deletion have not been reported previously. CD18 cDNA carrying the abnormalities were cotransfected with normal CD11a or CD11b cDNA into COS cells. Expression of the LFA\u20101 (CD11a\/CD18) and Mac\u20101 (CD11b\/CD18) antigens on COS cells was not detected, suggesting that these two mutations are sufficient to account for LAD.<\/jats:p>","DOI":"10.1002\/eji.1830250313","type":"journal-article","created":{"date-parts":[[2007,3,2]],"date-time":"2007-03-02T00:25:04Z","timestamp":1172795104000},"page":"717-722","source":"Crossref","is-referenced-by-count":29,"title":["Molecular characterization of leukocyte adhesion deficiency in six patients"],"prefix":"10.1002","volume":"25","author":[{"given":"Ann H.","family":"Wright","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy A.","family":"Douglass","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. 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