Molecular basis of common variable immunodeficiency

The Journal of Allergy and Clinical Immunology
Emanuela Castigli, Raif S Geha

Abstract

Common variable immunodeficiency (CVID) is the most prevalent human primary immunodeficiency requiring medical attention. Until recently, the only known genetic defect specific to CVID was the inducible costimulatory receptor (ICOS) deficiency, which accounts for less than 1% of the patients. Recently, mutations in the TNF receptor family member transmembrane activator and calcium-modulator and cyclophilin ligand interactor (TACI), which mediates isotype switching in B cells, were found to be present in 10% to 20% of patients with CVID. Mutations in TACI were also found in relatives of patients with CVID who had IgA deficiency (IgAD), as well as in a patient with isolated IgAD. In the majority of patients described to date, only one TACI allele is mutated, showing an autosomal dominant transmission of the disease. B cells from individuals with TACI mutations did not produce IgG and IgA in response to the TACI ligand a proliferation-inducing ligand (APRIL), probably reflecting impaired isotype switching. These results suggest that TACI mutations can lead to CVID and IgAD.

References

Feb 1, 1994·Proceedings of the National Academy of Sciences of the United States of America·M FarringtonH D Ochs
Sep 1, 1997·Journal of Pediatric Gastroenterology and Nutrition·H R GillettA Ferguson
Oct 28, 1998·Proceedings of the National Academy of Sciences of the United States of America·Y LevyC A Reynaud
Jun 17, 1999·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Z WangC A Alper
Aug 2, 2000·Mammalian Genome : Official Journal of the International Mammalian Genome Society·G U von BülowR J Bram
May 9, 2001·Nature·A J McAdamA H Sharpe
May 24, 2001·Immunity·G U von BülowR J Bram
Jun 29, 2001·Nature Immunology·M YanV M Dixit
Jul 27, 2001·Clinical and Experimental Immunology·S A WestonE M Benson
Feb 14, 2002·Trends in Biochemical Sciences·Jean-Luc BodmerJürg Tschopp
Aug 3, 2002·Nature Immunology·Mikhail B LitinskiyAndrea Cerutti
Nov 5, 2002·Current Opinion in Immunology·Fabienne Mackay, Susan L Kalled
Nov 13, 2002·Annual Review of Immunology·Fabienne MackayJeffrey Browning
Feb 11, 2003·Nature Immunology·Bodo GrimbacherHans H Peter
Sep 2, 2003·Nature Reviews. Immunology·Raif S GehaScott R Brodeur
Oct 15, 2003·The Journal of Experimental Medicine·Ziaur S M RahmanTim Manser
Jan 7, 2004·The Journal of Experimental Medicine·Brian P O'ConnorRandolph J Noelle
Feb 28, 2004·Proceedings of the National Academy of Sciences of the United States of America·Emanuela CastigliRaif S Geha
Apr 8, 2004·Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research·Harry W SchroederSofia M Sheikh
Apr 17, 2004·Clinical and Experimental Immunology·T AsanoN Kondo
Apr 23, 2004·Clinical and Experimental Medicine·M Di RenzoA Auteri
Aug 24, 2004·Clinical and Experimental Immunology·D EastwoodH B Gaspar
Oct 28, 2004·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Ulrich SalzerBodo Grimbacher
Nov 16, 2004·The Journal of Biological Chemistry·Sarah G HymowitzMelissa A Starovasnik
Nov 24, 2004·Anais Da Academia Brasileira De Ciências·Cristina M KokronLuiz V Rizzo
Jan 5, 2005·The Journal of Experimental Medicine·Emanuela CastigliRaif S Geha
Apr 5, 2005·The Journal of Allergy and Clinical Immunology·Haifa H Jabara, Raif S Geha

❮ Previous
Next ❯

Citations

Oct 6, 2007·Immunologic Research·Richard A GattiRobert A Good
Jul 22, 2008·The Journal of Pediatrics·Marco BerlucchiAlessandro Plebani
Feb 9, 2011·Médecine sciences : M/S·Julie SmetFrançoise Mascart
Mar 16, 2013·Proceedings of the National Academy of Sciences of the United States of America·Hong-Ying WangAshish Jain
Jul 23, 2008·Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America·Joris J van DrielTaco W Kuijpers
Sep 25, 2009·BMC Medical Genetics·Manda L WaldrepHarry W Schroeder
Oct 18, 2012·Annual Review of Medicine·Krzysztof KirylukAli G Gharavi
May 30, 2012·Clinics in Chest Medicine·Grant W Waterer
Apr 8, 2010·The Journal of Allergy and Clinical Immunology·Andre M Vale, Harry W Schroeder
Dec 19, 2006·Allergologia et immunopathologia·A Blanco-QuirósE Arranz-Sanz
May 20, 2008·Human Immunology·Raquel López-MejíasConcepción Núñez
Oct 13, 2007·The Journal of Allergy and Clinical Immunology·William T ShearerJennifer M Puck
Dec 28, 2007·Advances in Dermatology·Melissa Abrams, Amy Paller
Feb 6, 2007·The Journal of Allergy and Clinical Immunology·Javier Chinen, William T Shearer
Nov 11, 2006·Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics·Andres PintoFaizan Alawi
Feb 12, 2009·British Journal of Haematology·Johanna SvahnCarlo Dufour
Jun 12, 2008·Journal of Internal Medicine·Jean-Laurent CasanovaLaurent Abel
Oct 9, 2009·Acta Clinica Belgica·Ph R Roelandt, D Blockmans
Aug 6, 2011·Scandinavian Journal of Immunology·E J H SchatorjéE de Vries
Dec 2, 2011·Annals of the New York Academy of Sciences·László Maródi, UNKNOWN J Project Study Group
Jun 26, 2007·The Journal of Allergy and Clinical Immunology·Javier Chinen, William T Shearer
Feb 1, 2011·International Journal of Antimicrobial Agents·L J Maarschalk-EllerbroekP M Ellerbroek
Jan 11, 2011·Clinical Immunology : the Official Journal of the Clinical Immunology Society·J SmetL Schandené
Aug 12, 2008·Lancet·Miguel A ParkRoshini S Abraham
Oct 2, 2007·American Journal of Clinical Dermatology·Jenny VuMadeleine Duvic
Feb 19, 2019·Clinical Transplantation·Luis Martín-PenagosEmilio Rodrigo
Oct 16, 2013·Current Opinion in Allergy and Clinical Immunology·Marylin Desjardins, Bruce D Mazer
Aug 27, 2017·Journal of Clinical Immunology·Aurélien GuffroyUNKNOWN DEFI study group
Feb 18, 2018·Journal of Clinical Immunology·Monica G LawrenceLarry Borish

❮ Previous
Next ❯

Related Concepts

Related Feeds

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.

B-Cell Leukemia (Keystone)

B-cell leukemia includes various types of lymphoid leukemia that affect B cells. Here is the latest research on B-cell leukemia.

Cancer Vaccines

Cancer vaccines are vaccines that either treat existing cancer or prevent development of a cancer.

Calcium & Bioenergetics

Bioenergetic processes, including cellular respiration and photosynthesis, concern the transformation of energy by cells. Here is the latest research on the role of calcium in bioenergetics.

B cell Activation

B cell activation is initiated by the ligation of the B cell receptor with antigen and ultimately results in the production of protective antibodies against potentially pathogenic invaders. Here is the latest research.

B cell Differentiation

Depending on the signal received through the B cell receptor and other receptors, B cells differentiate into follicular or marginal zone B cells. Here is the latest research pertaining to this differentiation process.