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



Pashangzadeh S^{1, 2} ; Yazdani R² ; Nazari F³ ; Azizi G⁴ ; Abolhassani H^{5, 6} ; Aghamohammadi A²
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.