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Monogenic Mutations Associated With Iga Deficiency Publisher Pubmed



Abolhassani H1, 2 ; Aghamohammadi A2 ; Hammarstrom L1
Authors
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Authors Affiliations
  1. 1. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden
  2. 2. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Source: Expert Review of Clinical Immunology Published:2016


Abstract

Introduction: For twenty years, two paradigms have been considered as the main genetic contributors to immunoglobulin A deficiency, including cytogenetic defects involving large chromosomal aberrations and an association with the human major histocompatibility complex (MHC) locus. However, an overview of recent studies suggests a role for several monogenic disorders in the development of this disease. Areas covered: This review examines the concept of monogenic disorders for patients with IgA deficiency in order to identify the underlying pathogenic mechanism(s). Expert commentary: A clinical/immunologic workup followed by targeted gene mutation analysis has been proposed for an approach to IgA deficient patients. © 2016 Informa UK Limited, trading as Taylor & Francis Group.
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