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Recurrent Infections and Chronic Diarrhea

  • Sevgi Köstel Bal
  • Aydan IkinciogullariEmail author
Chapter

Abstract

Although LRBA deficiency was first categorized as common variable immune deficiency (CVID), with autoimmune manifestations and IBD the phenotype was extended to the spectrum of combined immunodeficiencies

The LRBA gene, which encodes LPS-responsive beige-like anchor protein (LRBA), has been linked to defective vesicle trafficking including transendocytosis and turnover of CTLA-4 in regulatory T cells

A decrease in LRBA protein function leads to the diminished expression of CTLA-4 on the surface of Tregs

Patients who present with defects in CTLA-4 biology further show autoantibody-mediated cytopenia, lymphoproliferation, hypogammaglobulinemia, organ specific autoimmunity and lymphocytic infiltration of non-lymphoid organs

Keywords

Common variable immune deficiency LRBA CTLA-4 

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Ankara University School of Medicine, Department of Pediatric Allergy and ImmunologyAnkaraTurkey

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