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

doi:10.1007/s10875-016-0232-2

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

Journal of clinical immunology - 1 Feb 2016

Dang Tarana Singh, Willet Joseph D P, 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

Abstract excerpt

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 human lymphocytes has yet to be fully explored. Patient lymphocytes were therefore investigated in the context of...

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

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