title: Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency.
abstract: The antigen receptor repertoires of B- and T-cells form the basis of the adaptive immune response. The repertoires should be sufficiently diverse to recognize all possible pathogens. However, careful selection is needed to prevent responses to self or harmless antigens. Limited antigen receptor repertoire diversity leads to immunodeficiency, whereas unselected or misdirected repertoires can result in autoimmunity. The antigen receptor repertoire harbors information about abnormalities in many immunological disorders. Recent developments in next generation sequencing allow the analysis of the antigen receptor repertoire in much greater detail than ever before. Analyzing the antigen receptor repertoire in patients with mutations in genes responsible for the generation of the antigen receptor repertoire will give new insights into repertoire formation and selection. In this perspective, we describe strategies and considerations for analysis of the naive and antigen-selected B-cell repertoires in primary immunodeficiency patients with a focus on severe combined immunodeficiency and common variable immunodeficiency.
authors.affiliation: Department of Immunology, Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands.
authors.forename: Hanna
authors.initials: H
authors.lastname: IJspeert
authors.affiliation: Department of Immunology, Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands.
authors.forename: Marjolein
authors.initials: M
authors.lastname: Wentink
authors.affiliation: Department of Immunology, Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands ; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands.
authors.forename: David
authors.initials: D
authors.lastname: van Zessen
authors.affiliation: Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands.
authors.forename: Gertjan J
authors.initials: GJ
authors.lastname: Driessen
authors.affiliation: Department of Immunology, Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands.
authors.forename: Virgil A S H
authors.initials: VA
authors.lastname: Dalm
authors.affiliation: Department of Immunology, Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands.
authors.forename: Martin P
authors.initials: MP
authors.lastname: van Hagen
authors.affiliation: Department of Immunology, Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands.
authors.forename: Ingrid
authors.initials: I
authors.lastname: Pico-Knijnenburg
authors.affiliation: Department of Immunology, Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands.
authors.forename: Erik J
authors.initials: EJ
authors.lastname: Simons
authors.affiliation: Department of Immunology, Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands.
authors.forename: Jacques J M
authors.initials: JJ
authors.lastname: van Dongen
authors.affiliation: Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands.
authors.forename: Andrew P
authors.initials: AP
authors.lastname: Stubbs
authors.affiliation: Department of Immunology, Erasmus MC, University Medical Center Rotterdam , Rotterdam , Netherlands.
authors.forename: Mirjam
authors.initials: M
authors.lastname: van der Burg
keywords: CVID; V(D)J recombination; immunodeficiency; next generation sequencing; repertoire