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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Bibliographic Details
Published in:J Clin Immunol
Main Authors: 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
Format: Artigo
Language:Inglês
Published: Springer US 2016
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Astute Clinician Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4769310/
https://ncbi.nlm.nih.gov/pubmed/26801501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-016-0232-2
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