Biomaterial Database

Autoimmune and Lymphoproliferative Complications of Common Variable Immunodeficiency. 2016

Paul J Maglione

Division of Clinical Immunology, Department of Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1089, New York, NY, 10029, USA. paul.maglione@mssm.edu.

Common variable immunodeficiency (CVID) is frequently complicated by the development of autoimmune and lymphoproliferative diseases. With widespread use of immunoglobulin replacement therapy, autoimmune and lymphoproliferative complications have replaced infection as the major cause of morbidity and mortality in CVID patients. Certain CVID complications, such as bronchiectasis, are likely to be the result of immunodeficiency and are associated with infection susceptibility. However, other complications may result from immune dysregulation rather than immunocompromise. CVID patients develop autoimmunity, lymphoproliferation, and granulomas in association with distinct immunological abnormalities. Mutations in transmembrane activator and CAML interactor, reduction of isotype-switched memory B cells, expansion of CD21 low B cells, heightened interferon signature expression, and retained B cell function are all associated with both autoimmunity and lymphoproliferation in CVID. Further research aimed to better understand that the pathological mechanisms of these shared forms of immune dysregulation may inspire therapies beneficial for multiple CVID complications.

UI	MeSH Term	Description	Entries
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
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
D017074	Common Variable Immunodeficiency	Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.	Immunodeficiency, Common Variable,Common Variable Hypogammaglobulinemia,Common Variable Immune Deficiency,Hypogammaglobulinemia, Acquired,Immunoglobulin Deficiency, Late-Onset,Acquired Hypogammaglobulinemia,Acquired Hypogammaglobulinemias,Common Variable Hypogammaglobulinemias,Common Variable Immunodeficiencies,Deficiencies, Late-Onset Immunoglobulin,Deficiency, Late-Onset Immunoglobulin,Hypogammaglobulinemia, Common Variable,Hypogammaglobulinemias, Acquired,Hypogammaglobulinemias, Common Variable,Immunodeficiencies, Common Variable,Immunoglobulin Deficiencies, Late-Onset,Immunoglobulin Deficiency, Late Onset,Late-Onset Immunoglobulin Deficiencies,Late-Onset Immunoglobulin Deficiency,Variable Hypogammaglobulinemia, Common,Variable Hypogammaglobulinemias, Common
D017578	Immunoglobulin Class Switching	Gene rearrangement of the B-lymphocyte which results in a substitution in the type of heavy-chain constant region that is expressed. This allows the effector response to change while the antigen binding specificity (variable region) remains the same. The majority of class switching occurs by a DNA recombination event but it also can take place at the level of RNA processing.	Class Switching,Ig Class Switching,Isotype Switching,Class Switching, Ig,Class Switching, Immunoglobulin,Class Switchings,Class Switchings, Ig,Class Switchings, Immunoglobulin,Ig Class Switchings,Immunoglobulin Class Switchings,Isotype Switchings,Switching, Class,Switching, Ig Class,Switching, Immunoglobulin Class,Switching, Isotype,Switchings, Class,Switchings, Ig Class,Switchings, Immunoglobulin Class,Switchings, Isotype
D056735	Autoimmune Lymphoproliferative Syndrome	Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY.	Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant,Autoimmune Lymphoproliferative Syndrome Type 2B,Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B),Canale Smith Syndrome,Caspase 8 Deficiency,Caspase-8 Deficiency,Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant,Autoimmune Lymphoproliferative Syndrome, Type IIb,Canale-Smith Syndrome,Autoimmune Lymphoproliferative Syndromes,Canale-Smith Syndromes,Caspase 8 Deficiencies,Caspase-8 Deficiencies,Deficiencies, Caspase 8,Deficiencies, Caspase-8,Deficiency, Caspase 8,Deficiency, Caspase-8,Lymphoproliferative Syndrome, Autoimmune,Lymphoproliferative Syndromes, Autoimmune,Syndrome, Autoimmune Lymphoproliferative,Syndrome, Canale Smith,Syndrome, Canale-Smith,Syndromes, Autoimmune Lymphoproliferative,Syndromes, Canale-Smith