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Article: Molecular characterization of leukocyte adhesion deficiency in six patients

TitleMolecular characterization of leukocyte adhesion deficiency in six patients
Authors
KeywordsCD18 gene
Leukocyte adhesion deficiency
Issue Date1995
PublisherWiley - V C H Verlag GmbH & Co KGaA. The Journal's web site is located at http://www.eji.de
Citation
European Journal Of Immunology, 1995, v. 25 n. 3, p. 717-722 How to Cite?
AbstractLeukocyte adhesion deficiency (LAD) is caused by defects in the CD18 gene, which codes for the common β2 subunit of the leukocyte integrins LFA-1, Mac-1 and p150,95. Failure to produce a functional β2 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-bp (GA) deletion at position 1256 (1256ΔGA) 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' 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 1256ΔGA 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-1 (CD11a/CD18) and Mac-1 (CD11b/CD18) antigens on COS cells was not detected, suggesting that these two mutations are sufficient to account for LAD.
Persistent Identifierhttp://hdl.handle.net/10722/79885
ISSN
2015 Impact Factor: 4.179
2015 SCImago Journal Rankings: 2.568
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorWright, AHen_HK
dc.contributor.authorDouglass, WAen_HK
dc.contributor.authorTaylor, GMen_HK
dc.contributor.authorLau, YLen_HK
dc.contributor.authorHiggins, Den_HK
dc.contributor.authorDavies, KAen_HK
dc.contributor.authorLaw, SKAen_HK
dc.date.accessioned2010-09-06T07:59:51Z-
dc.date.available2010-09-06T07:59:51Z-
dc.date.issued1995en_HK
dc.identifier.citationEuropean Journal Of Immunology, 1995, v. 25 n. 3, p. 717-722en_HK
dc.identifier.issn0014-2980en_HK
dc.identifier.urihttp://hdl.handle.net/10722/79885-
dc.description.abstractLeukocyte adhesion deficiency (LAD) is caused by defects in the CD18 gene, which codes for the common β2 subunit of the leukocyte integrins LFA-1, Mac-1 and p150,95. Failure to produce a functional β2 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-bp (GA) deletion at position 1256 (1256ΔGA) 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' 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 1256ΔGA 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-1 (CD11a/CD18) and Mac-1 (CD11b/CD18) antigens on COS cells was not detected, suggesting that these two mutations are sufficient to account for LAD.en_HK
dc.languageengen_HK
dc.publisherWiley - V C H Verlag GmbH & Co KGaA. The Journal's web site is located at http://www.eji.deen_HK
dc.relation.ispartofEuropean Journal of Immunologyen_HK
dc.subjectCD18 geneen_HK
dc.subjectLeukocyte adhesion deficiencyen_HK
dc.titleMolecular characterization of leukocyte adhesion deficiency in six patientsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0014-2980&volume=25&spage=717&epage=722&date=1995&atitle=Molecular+characterization+of+leukocyte+adhesion+deficiency+in+six+patientsen_HK
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1002/eji.1830250313en_HK
dc.identifier.pmid7705401-
dc.identifier.scopuseid_2-s2.0-0028903497en_HK
dc.identifier.hkuros2413en_HK
dc.identifier.volume25en_HK
dc.identifier.issue3en_HK
dc.identifier.spage717en_HK
dc.identifier.epage722en_HK
dc.identifier.isiWOS:A1995QY50700012-
dc.publisher.placeGermanyen_HK
dc.identifier.scopusauthoridWright, AH=7403738779en_HK
dc.identifier.scopusauthoridDouglass, WA=6701331130en_HK
dc.identifier.scopusauthoridTaylor, GM=35453110900en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.scopusauthoridHiggins, D=7202960434en_HK
dc.identifier.scopusauthoridDavies, KA=7402535417en_HK
dc.identifier.scopusauthoridLaw, SKA=7202242080en_HK

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