Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

PURPOSE: To investigate the clinical and functional aspects of MST1 (STK4) deficiency in a profoundly CD4-lymphopenic kindred with a novel homozygous nonsense mutation in STK4. Although recent studies have described the cellular effects of murine Mst1 deficiency, the phenotype of MST1-deficient huma...

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Detalles Bibliográficos
Autores principales: Dang, Tarana Singh, Willet, Joseph DP, Griffin, Helen R, Morgan, Neil V, O’Boyle, Graeme, Arkwright, Peter D, Hughes, Stephen M, Abinun, Mario, Tee, Louise J, Barge, Dawn, Engelhardt, Karin R, Jackson, Michael, Cant, Andrew J, Maher, Eamonn R, Koref, Mauro Santibanez, Reynard, Louise N, Ali, Simi, Hambleton, Sophie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2016
Materias:
Astute Clinician Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4769310/
https://www.ncbi.nlm.nih.gov/pubmed/26801501
http://dx.doi.org/10.1007/s10875-016-0232-2

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