{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T16:23:23Z","timestamp":1758817403138},"reference-count":23,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2005,11,22]],"date-time":"2005-11-22T00:00:00Z","timestamp":1132617600000},"content-version":"vor","delay-in-days":6261,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Immunol"],"published-print":{"date-parts":[[1988,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Leukocyte adhesion deficiency (LAD) is a recessive autosomal disease characterized by life\u2010threatening recurrent bacterial infections, by defective functions of leukocytes and by deficient membrane expression of leukocyte adhesion glycoproteins. These proteins, LFA\u20101, Mac\u20101 and p150,95, are \u03b1\/\u03b2<jats:sub>1<\/jats:sub> heterodimers composed of different a chains and of a common \u03b2 chain. Patients with the severe phenotype of the disease completely lack the three glycoproteins on cell surface. Previous studies showed a conserved synthesis of the LFA\u20101 \u03b1 chain precursor in cytosol of patients' cells and an inconstant presence of the \u03b2 chain precursor. When present, precursors are in free form and not associated to \u03b1\/\u03b2 complexes in the cells of patients with the severe phenotype. The availability of the \u03b2 chain cDNA probe allowed us to examine the \u03b2 chain gene expression in the lymphoblastoid cell lines of 4 patients. On the basis of the results obtained both at protein and RNA levels we can distinguish 3 types of mutations characterized by (a) barely detectable \u03b2 subunit messenger RNA and un\u2010detectable \u03b2 precursor, (b) decreased level of \u03b2 subunit mRNA and undetectable \u03b2 precursor and (c) normal \u03b2 subunit mRNA level and detectable p precursor of normal size.<\/jats:p>","DOI":"10.1002\/eji.1830181016","type":"journal-article","created":{"date-parts":[[2007,3,1]],"date-time":"2007-03-01T05:07:48Z","timestamp":1172725668000},"page":"1575-1580","source":"Crossref","is-referenced-by-count":18,"title":["Heterogeneity in the molecular defect leading to the leukocyte adhesion deficiency"],"prefix":"10.1002","volume":"18","author":[{"given":"Marie\u2010Th\u00e9r\u00e8se","family":"Dimanche\u2010Boitrel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Guyot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genevi\u00e9ve","family":"De Saint\u2010Basile","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Main","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claude Griscelli","family":"And","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Lisowska\u2010Grospierre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,22]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-065X.1982.tb01064.x"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.154.5.1517"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.158.6.1785"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.158.2.586"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/eji.1830150714"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI111186"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI111451"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI111539"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.160.6.1901"},{"key":"e_1_2_1_11_2","first-page":"91","volume-title":"Progress in Immunodeficiency Research and Therapy","author":"Lisowska\u2010Grospierre B.","year":"1984"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112251"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/infdis\/152.4.668"},{"key":"e_1_2_1_14_2","first-page":"2664","volume":"44","author":"Arnaout M. 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