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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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2008
Assuntos:
Immunobiology
Acesso em linha: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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