ff6874cef2f3264c7180cc3a71391b9b  pmc_11009781.pdf
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2d60fd241b95ed88dd3da6496f030dfb05d97f52442358b821094d50bc3fea1c  pmc_11009781.pdf

Title:           Inherited human ezrin deficiency impairs adaptive immunity
Keywords:        
 Primary immunodeficiency
 , 
 inborn errors of immunity
 , 
 antibody deficiency
 , EZR, 
 lymphoid cells
 , 
 mass cytometry
 , 
 computational immunology
 , 
 next-generation sequencing
 
Author:          Blanca García-Solís, Ana Van Den Rym, Laura Martinez-Martínez, Teresa Franco, Jareb J. Pérez-Caraballo, Janet Markle, Carolina Cubillos-Zapata, Ana V. Marín, María J. Recio, José R. Regueiro, Alfonso Navarro-Zapata, Carmen Mestre-Durín, Cristina Ferreras, Carla Martín Cotázar, Roció Mena, Carlos de la Calle-Fabregat, Alberto López-Lera, Miguel Fernández Arquero, Antonio Pérez-Martínez, Eduardo López-Collazo, Silvia Sánchez-Ramón, Jean-Laurent Casanova, Rubén Martínez-Barricarte, Oscar de la Calle-Martín, Rebeca Pérez de Diego
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    Outlines: 
     Item: 
      Title: Abstract
     Item: 
      Title: METHODS
      Children: 
       Item: 
        Title: Study approval
       Item: 
        Title: Human molecular genetics and whole-exome sequencing
       Item: 
        Title: Alignment of multiple amino acid sequences
       Item: 
        Title: Protein structure modeling
       Item: 
        Title: Cell purification and culture
       Item: 
        Title: Immunoblot analysis
       Item: 
        Title: Mass cytometry
        Children: 
         Item: 
          Title: Staining and data acquisition.
         Item: 
          Title: Data analysis.
       Item: 
        Title: Flow cytometry study of lymphocyte subpopulations
       Item: 
        Title: Carboxyfluorescein succinimidyl ester proliferation assay for T cells
       Item: 
        Title: In vitro migration
       Item: 
        Title: Calcium flux
       Item: 
        Title: Mutagenesis and transient transfections
       Item: 
        Title: Cytokine determinations
       Item: 
        Title: Statistical analysis
     Item: 
      Title: RESULTS
      Children: 
       Item: 
        Title: Homozygous EZR mutation was found in a patient with B-cell deficiency
       Item: 
        Title: Ezrin A129T mutation results in loss of function
       Item: 
        Title: Ezrin deficiency is implicated in T-cell lymphopenia
       Item: 
        Title: Impaired memory B-cell development occurs in the absence of functional ezrin
       Item: 
        Title: Ezrin deficiency affects calcium flux in B cells
       Item: 
        Title: Ezrin deficiency alters IL-10 secretion but not chemotaxis in B cells
       Item: 
        Title: T-cell signaling remains intact in ezrin deficiency
       Item: 
        Title: Altered IL-2 production is driven by ezrin A129T mutation
     Item: 
      Title: DISCUSSION
     Item: 
      Title: References
     Item: 
      Title: FIG 1.
     Item: 
      Title: FIG 2.
     Item: 
      Title: FIG 3.
     Item: 
      Title: FIG 4.
     Item: 
      Title: FIG 5.
     Item: 
      Title: FIG 6.
     Item: 
      Title: TABLE I.
     Item: 
      Title: TABLE II.
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<pdf:Keywords>
 Primary immunodeficiency
 , 
 inborn errors of immunity
 , 
 antibody deficiency
 , EZR, 
 lymphoid cells
 , 
 mass cytometry
 , 
 computational immunology
 , 
 next-generation sequencing
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