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Known and Potential Molecules Associated With Altered B Cell Development Leading to Predominantly Antibody Deficiencies Publisher Pubmed



Amirifar P1, 2 ; Yazdani R1, 3 ; Azizi G4 ; Ranjouri MR1 ; Durandy A5 ; Plebani A6 ; Lougaris V6 ; Hammarstrom L7, 8 ; Aghamohammadi A1 ; Abolhassani H1, 7, 8
Authors
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Authors Affiliations
  1. 1. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran
  4. 4. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  5. 5. Human Lymphohematopoiesis Laboratory, Institut Imagine, Inserm U1163, Paris Descartes Sorbonne, Paris Cite University, Paris, France
  6. 6. Pediatrics Clinic and A. Nocivelli Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, ASST Spedali Civili of Brescia, Brescia, Italy
  7. 7. Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden
  8. 8. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden

Source: Pediatric Allergy and Immunology Published:2021


Abstract

Predominantly antibody deficiencies (PADs) encompass a heterogeneous group of disorders characterized by low immunoglobulin serum levels in the presence or absence of peripheral B cells. Clinical presentation of affected patients may include recurrent respiratory and gastrointestinal infections, invasive infections, autoimmune manifestations, allergic reactions, lymphoproliferation, and increased susceptibility to malignant transformation. In the last decades, several genetic alterations affecting B-cell development/maturation have been identified as causative of several forms of PADs, adding important information on the genetic background of PADs, which in turn should lead to a better understanding of these disorders and precise clinical management of affected patients. This review aimed to present a comprehensive overview of the known and potentially involved molecules in the etiology of PADs to elucidate the pathogenesis of these disorders and eventually offer a better prognosis for affected patients. © 2021 The Authors. Pediatric Allergy and Immunology published by European Academy of Allergy and Clinical Immunology and John Wiley & Sons Ltd.
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