title: The long and winding road to IgA deficiency: causes and consequences.
abstract: The most common humoral immunodeficiency is IgA deficiency. One of the first papers addressing the cellular and molecular mechanisms underlying IgA deficiency indicated that immature IgA-positive B-lymphocytes are present in these patients. This suggests that the genetic background for IgA is still intact and that class switching can take place. At this moment, it cannot be ruled out that genetic as well as environmental factors are involved. Areas covered: A clinical presentation, the biological functions of IgA, and the management of IgA deficiency are reviewed. In some IgA deficient patients, a relationship with a loss-of-function mutation in the TACI (transmembrane activator and calcium-modulating cyclophilin ligand interaction) gene has been found. Many other genes also have been associated. Gut microbiota are an important environmental trigger for IgA synthesis. Expert commentary: Expression of IgA deficiency is due to both genetic and environmental factors and a role for gut microbiota cannot be excluded.
authors: a Department of Science , University College Roosevelt , Middelburg , The Netherlands.
authors: D T Laura
authors: DT
authors: Vo Ngoc
authors: a Department of Science , University College Roosevelt , Middelburg , The Netherlands.
authors: Lizette
authors: L
authors: Krist
authors: a Department of Science , University College Roosevelt , Middelburg , The Netherlands.
authors: Frans J
authors: FJ
authors: van Overveld
authors: a Department of Science , University College Roosevelt , Middelburg , The Netherlands.
authors: Ger T
authors: GT
authors: Rijkers
mesh_terms: D000818:Animals; D053264:B-Cell Activating Factor / Q000235:genetics; D001402:B-Lymphocytes / Q000502:physiology*; D059647:Gene-Environment Interaction; D020022:Genetic Predisposition to Disease; D006801:Humans; D017098:IgA Deficiency / Q000209:etiology / Q000276:immunology*; D018928:Immunity, Mucosal; D007070:Immunoglobulin A / Q000378:metabolism*; D017578:Immunoglobulin Class Switching; D064307:Microbiota / Q000276:immunology*; D011110:Polymorphism, Genetic; D054448:Precursor Cells, B-Lymphoid / Q000502:physiology*; D053303:Transmembrane Activator and CAML Interactor Protein / Q000235:genetics*; D053300:Tumor Necrosis Factor Ligand Superfamily Member 13 / Q000235:genetics
chemical_list: D053264:B-Cell Activating Factor; D007070:Immunoglobulin A; C108467:TNFRSF13B protein, human; D053303:Transmembrane Activator and CAML Interactor Protein; D053300:Tumor Necrosis Factor Ligand Superfamily Member 13
keywords: APRIL; BAFF; IgA; TACI; family case; immune deficiency