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Agammaglobulinemia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management Publisher Pubmed



Pashangzadeh S1, 2 ; Yazdani R2 ; Nazari F3 ; Azizi G4 ; Abolhassani H5, 6 ; Aghamohammadi A2
Authors
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Authors Affiliations
  1. 1. Department of Immunology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran
  2. 2. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, Tehran, Iran
  3. 3. Department of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  5. 5. Research Center for Primary Immunodeficiencies, Iran University of Medical Sciences, Tehran, Iran
  6. 6. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital, Huddinge, Stockholm, Sweden

Source: Endocrine# Metabolic and Immune Disorders - Drug Targets Published:2020


Abstract

Agammaglobulinemia is a type of primary antibody deficiencies, characterized by severe reduction in serum level of all types of immunoglobulins level and absence of B cells in the peripheral blood. X-linked and various autosomal recessive/dominant mutations have been identified underlying the pathogenesis of this disorder. Affected patients present a broad range of clinical manifestations, including respiratory infections, gastrointestinal complications, Enterovirus infections, autoimmunity, and malignancies. This disease can be controlled by different therapeutic strategies. In this review, we describe different aspects of agammaglobulinemia such as epidemiology, pathogenesis, clinical pheno-type, diagnosis, management, and prognosis of congenital agammaglobulinemia. © 2020 Bentham Science Publishers.
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