Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)

Leukocyte adhesion deficiency type-1 (LAD-1) is an autosomal recessive immunodeficiency caused by mutations in the β2 integrin, CD18, that impair CD11/CD18 heterodimer surface expression and/or function. Absence of functional CD11/CD18 integrins on leukocytes, particularly neutrophils, leads to thei...

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Bibliografische gegevens
Hoofdauteurs: Uzel, Gulbu, Tng, Emilia, Rosenzweig, Sergio D., Hsu, Amy P., Shaw, Jacqueline M., Horwitz, Mitchell E., Linton, Gilda F., Anderson, Stacie M., Kirby, Martha R., Oliveira, Jaõ B., Brown, Margaret R., Fleisher, Thomas A., Law, S. K. Alex, Holland, Steven M.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society of Hematology 2008
Onderwerpen:
Immunobiology
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2200806/
https://ncbi.nlm.nih.gov/pubmed/17875809
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2007-04-082552
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