Molecular and cellular mechanisms underlying defective antibody responses. 2020

Elissa K Deenick, and Anthony Lau, and Julia Bier, and Alisa Kane
Immunity and Inflammatory Diseases, Garvan Institute of Medical Research, Darlinghurst, NSW, 2010, Australia.

Primary immune deficiency is caused by genetic mutations that result in immune dysfunction and subsequent susceptibility to infection. Over the last decade there has been a dramatic increase in the number of genetically defined causes of immune deficiency including those which affect B-cell function. This has not only identified critical nonredundant pathways that control the generation of protective antibody responses but also revealed that immunodeficiency and autoimmunity are often closely linked. Here we explore the molecular and cellular mechanisms of these rare monogenic conditions that disrupt antibody production, which also have implications for understanding the causes of more common polygenic immune dysfunction.

UI MeSH Term Description Entries
D007153 Immunologic Deficiency Syndromes Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. Antibody Deficiency Syndrome,Deficiency Syndrome, Immunologic,Deficiency Syndromes, Antibody,Deficiency Syndromes, Immunologic,Immunologic Deficiency Syndrome,Immunological Deficiency Syndromes,Antibody Deficiency Syndromes,Deficiency Syndrome, Antibody,Deficiency Syndrome, Immunological,Deficiency Syndromes, Immunological,Immunological Deficiency Syndrome,Syndrome, Antibody Deficiency,Syndrome, Immunologic Deficiency,Syndrome, Immunological Deficiency,Syndromes, Antibody Deficiency,Syndromes, Immunologic Deficiency,Syndromes, Immunological Deficiency
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000081207 Primary Immunodeficiency Diseases Genetic immunologic deficiency diseases and syndromes due to mutations in genes involved in IMMUNITY generally characterized by an increased susceptibility to infectious diseases. They are often associated with AUTOIMMUNE DISEASE manifestations. Congenital Immunodeficiency Disease,Congenital Immunodeficiency Diseases,Congenital Immunodeficiency Disorder,Congenital Immunodeficiency Disorders,Congenital Immunodeficiency Syndrome,Congenital Immunodeficiency Syndromes,Inherited Immunodeficiency Disease,Inherited Immunodeficiency Diseases,Inherited Immunodeficiency Disorder,Inherited Immunodeficiency Disorders,Inherited Immunodeficiency Syndrome,Inherited Immunodeficiency Syndromes,Primary Antibody Deficiencies,Primary Antibody Deficiency Disorder,Primary Antibody Deficiency Disorders,Primary Antibody Deficiency Syndrome,Primary Antibody Deficiency Syndromes,Primary Immune Deficiency,Primary Immune Deficiency Disease,Primary Immune Deficiency Diseases,Primary Immune Deficiency Disorder,Primary Immune Deficiency Disorders,Primary Immune Deficiency Syndrome,Primary Immune Deficiency Syndromes,Primary Immunodeficiency Disease,Primary Immunodeficiency Disorder,Primary Immunodeficiency Disorders,Primary Immunodeficiency Syndromes,Antibody Deficiency, Primary,Deficiency, Primary Immune,Immune Deficiency, Primary,Immunodeficiency Disease, Congenital,Immunodeficiency Disease, Inherited,Immunodeficiency Disease, Primary,Immunodeficiency Diseases, Congenital,Immunodeficiency Diseases, Inherited,Immunodeficiency Diseases, Primary,Immunodeficiency Disorder, Congenital,Immunodeficiency Disorder, Inherited,Immunodeficiency Disorder, Primary,Immunodeficiency Disorders, Congenital,Immunodeficiency Disorders, Inherited,Immunodeficiency Syndrome, Congenital,Immunodeficiency Syndrome, Inherited,Immunodeficiency Syndrome, Primary,Immunodeficiency Syndromes, Congenital,Immunodeficiency Syndromes, Inherited,Immunodeficiency Syndromes, Primary,Inherited Immunodeficiency Syndrome,Primary Antibody Deficiency,Primary Immune Deficiencies,Primary Immunodeficiency Syndrome
D000917 Antibody Formation The production of ANTIBODIES by proliferating and differentiated B-LYMPHOCYTES under stimulation by ANTIGENS. Antibody Production,Antibody Response,Antibody Responses,Formation, Antibody,Production, Antibody,Response, Antibody,Responses, Antibody
D001402 B-Lymphocytes Lymphoid cells concerned with humoral immunity. They are short-lived cells resembling bursa-derived lymphocytes of birds in their production of immunoglobulin upon appropriate stimulation. B-Cells, Lymphocyte,B-Lymphocyte,Bursa-Dependent Lymphocytes,B Cells, Lymphocyte,B Lymphocyte,B Lymphocytes,B-Cell, Lymphocyte,Bursa Dependent Lymphocytes,Bursa-Dependent Lymphocyte,Lymphocyte B-Cell,Lymphocyte B-Cells,Lymphocyte, Bursa-Dependent,Lymphocytes, Bursa-Dependent
D015551 Autoimmunity Process whereby the immune system reacts against the body's own tissues. Autoimmunity may produce or be caused by AUTOIMMUNE DISEASES. Autoimmune Response,Autoimmune Responses,Autoimmunities

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