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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2007-12-24
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pubmed:abstractText |
Leukocyte adhesion deficiency type-1 (LAD-1) is an autosomal recessive immunodeficiency caused by mutations in the beta2 integrin, CD18, that impair CD11/CD18 heterodimer surface expression and/or function. Absence of functional CD11/CD18 integrins on leukocytes, particularly neutrophils, leads to their incapacity to adhere to the endothelium and migrate to sites of infection. We studied 3 LAD-1 patients with markedly diminished neutrophil CD18 expression, each of whom had a small population of lymphocytes with normal CD18 expression (CD18(+)). These CD18(+) lymphocytes were predominantly cytotoxic T cells, with a memory/effector phenotype. Microsatellite analyses proved patient origin of these cells. Sequencing of T-cell subsets showed that in each patient one CD18 allele had undergone further mutation. Interestingly, all 3 patients were young adults with inflammatory bowel disease. Somatic reversions of inherited mutations in primary T-cell immunodeficiencies are typically associated with milder clinical phenotypes. We hypothesize that these somatic revertant CD18(+) cytotoxic T lymphocytes (CTLs) may have altered immune regulation. The discovery of 3 cases of reversion mutations in LAD-1 at one center suggests that this may be a relatively common event in this rare disease.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-10373073,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-10398261,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-10431244,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-10886250,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-10936446,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-11226273,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-11313286,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-11447283,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-11703376,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-11805130,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-15845893,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-1680289,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-17244687,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-1973407,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-2580022,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-2656019,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-2835825,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-3555290,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-3594570,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-3900232,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-6339253,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-7310581,
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-8900089,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-8944573,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-9348298,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17875809-9727841
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0006-4971
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pubmed:author |
pubmed-author:AndersonStacie MSM,
pubmed-author:BrownMargaret RMR,
pubmed-author:FleisherThomas ATA,
pubmed-author:HollandSteven MSM,
pubmed-author:HorwitzMitchell EME,
pubmed-author:HsuAmy PAP,
pubmed-author:KirbyMartha RMR,
pubmed-author:LawS K AlexSK,
pubmed-author:LintonGilda FGF,
pubmed-author:OliveiraJaõ BJB,
pubmed-author:RosenzweigSergio DSD,
pubmed-author:ShawJacqueline MJM,
pubmed-author:TngEmiliaE,
pubmed-author:UzelGulbuG
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
111
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
209-18
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:17875809-Adult,
pubmed-meshheading:17875809-Antigens, CD18,
pubmed-meshheading:17875809-Antigens, CD8,
pubmed-meshheading:17875809-Female,
pubmed-meshheading:17875809-Genes, Recessive,
pubmed-meshheading:17875809-Humans,
pubmed-meshheading:17875809-Immunologic Memory,
pubmed-meshheading:17875809-Immunophenotyping,
pubmed-meshheading:17875809-Integrin alpha Chains,
pubmed-meshheading:17875809-Leukocyte-Adhesion Deficiency Syndrome,
pubmed-meshheading:17875809-Male,
pubmed-meshheading:17875809-Mosaicism,
pubmed-meshheading:17875809-Mutation,
pubmed-meshheading:17875809-Neutropenia,
pubmed-meshheading:17875809-Superantigens,
pubmed-meshheading:17875809-T-Lymphocytes, Cytotoxic
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pubmed:year |
2008
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pubmed:articleTitle |
Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1).
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pubmed:affiliation |
Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA. guzel@mail.nih.gov
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pubmed:publicationType |
Journal Article,
Research Support, N.I.H., Intramural
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