TITLE

Novel antibody switching defects in human patients

AUTHOR(S)
Manis, John P.; Alt, Frederick W.
PUB. DATE
July 2003
SOURCE
Journal of Clinical Investigation;7/1/2003, Vol. 112 Issue 1, p19
SOURCE TYPE
Academic Journal
DOC. TYPE
journal article
ABSTRACT
Comments on a study which characterized hyper-immunoglobulin M syndrome (HIGM) type 4, a defect in antibody gene diversification caused by a selective block in class-switch recombination (CSR). Background to HIGM; Difference between CSR and somatic hypermutation defects; Factors involved in differential processing and repair.
ACCESSION #
10259689

 

Related Articles

  • Genetic insights into schizophrenia. Bassett, Anne S; Bassett, A S; Chow, E W; Waterworth, D M; Brzustowicz, L // Canadian Journal of Psychiatry;Mar2001, Vol. 46 Issue 2, p131 

    Objective: To outline new insights into the genetic etiology of schizophrenia. Methods: We discuss several commonly held beliefs about the genetic issues in schizophrenia. Results: The complex genetic nature of the illness poses a challenge for...

  • A nonsense mutation of IDH1 in myelodysplastic syndromes and related disorders. Yoshida, K.; Sanada, M.; Kato, M.; Kawahata, R.; Matsubara, A.; Takita, J.; Shih, L.-Y.; Mori, H.; Koeffler, H. P.; Ogawa, S. // Leukemia (08876924);Jan2011, Vol. 25 Issue 1, p184 

    A letter to the editor is presented regarding the mutations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) in a series of cases with myelodysplastic syndrome (MDS).

  • Proteolytic processing of dynamin by cytoplasmic cathepsin L is a mechanism for proteinuric kidney disease. Sever, Sanja; Altintas, Mehmet M.; Nankoe, Sharif R.; Möller, Clemens C.; David Ko; Changli Wei; Henderson, Joel; del Re, Elizabetta C.; Lianne Hsing; Erickson, Ann; Cohen, Clemens D.; Kretzler, Matthias; Kerjaschki, Dontscho; Rudensky, Alexander; Nikolic, Boris; Reiser, Jochen; Möller, Clemens C; Ko, David; Wei, Changli; Hsing, Lianne // Journal of Clinical Investigation;Aug2007, Vol. 117 Issue 8, p2095 

    Kidney podocytes and their foot processes maintain the ultrafiltration barrier and prevent urinary protein loss (proteinuria). Here we show that the GTPase dynamin is essential for podocyte function. During proteinuric kidney disease, induction of cytoplasmic cathepsin L leads to cleavage of...

  • Mice overexpressing BAFF develop a commensal flora-dependent, IgA-associated nephropathy. McCarthy, Douglas D.; Kujawa, Julie; Wilson, Cheryl; Papandile, Adrian; Poreci, Urjana; Porfilio, Elisa A.; Ward, Lesley; Lawson, Melissa A.E.; Macpherson, Andrew J.; McCoy, Kathy D.; Pei, York; Novak, Lea; Lee, Jeannette Y.; Julian, Bruce A.; Novak, Jan; Ranger, Ann; Gommerman, Jennifer L.; Browning, Jeffrey L. // Journal of Clinical Investigation;Oct2011, Vol. 121 Issue 10, p3991 

    B cell activation factor of the TNF family (BAFF) is a potent B cell survival factor. BAFF overexpressing transgenic mice (BAFF-Tg mice) exhibit features of autoimmune disease, including B cell hyperplasia and hypergammaglobulinemia, and develop fatal nephritis with age. However, basal serum IgA...

  • Mitochondrial DNA mutations in human colonic crypt stem cells. Taylor, Robert W.; Barron, Martin J.; Borthwick, Gillian M.; Gospel, Amy; Chinnery, Patrick F.; Samuels, David C.; Taylor, Geoffrey A.; Plusa, Stelan M.; Needham, Stephanie J.; Greaves, Laura C.; Kirkwood, Thomas B. L.; Turnbull, Douglass M.; Plusa, Stefan M // Journal of Clinical Investigation;Nov2003, Vol. 112 Issue 9, p1351 

    The mitochondrial genome encodes 13 essential subunits of the respiratory chain and has remarkable genetics based on uniparental inheritance. Within human populations, the mitochondrial genome has a high rate of sequence divergence with multiple polymorphic variants and thus has played a major...

  • PTPN11 mutations in childhood acute lymphoblastic leukemia occur as a secondary event associated with high hyperdiploidy. Molteni, C. G.; te Kronnie, G.; Bicciato, S.; Villa, T.; Tartaglia, M.; Basso, G.; Biondi, A.; Cazzaniga, G. // Leukemia (08876924);Jan2010, Vol. 24 Issue 1, p232 

    A letter to the editor is presented that discusses PTPN11 mutations in childhood acute lymphoblastic leukemia which is stated to be the event associated with high hyperdiploidy.

  • Early and severe neurological features in a Wilson disease patient compound heterozygous for two frameshift mutations. Angius, A.; Dessi, V.; Lovicu, M.; De Virgiliis, S.; Pirastu, M.; Cao, A.; Antonio, C. // European Journal of Pediatrics;1998, Vol. 157 Issue 2, p128 

    Unlabelled: We describe a patient with Wilson disease who presented at 11 years of age with neurological symptoms and subsequent rapid progression of neurological impairment but absent hepatic manifestations. Molecular analysis showed compound heterozygosity for two frameshift...

  • Immune protection of nonhuman primates against Ebola virus with single low-dose adenovirus vectors encoding modified GPs. Sullivan, Nancy J.; Geisbert, Thomas W.; Geisbert, Joan B.; Shedlock, Devon J.; Ling Xu; Lamoreaux, Laurie; Custers, Jerome H. H. V.; Popernack, Paul M.; Zhi-Yong Yang; Pau, Maria G.; Roederer, Mario; Koup, Richard A.; Goudsmit, Jaap; Jahrling, Peter B.; Nabel, Gary J.; Xu, Ling; Yang, Zhi-Yong // PLoS Medicine;Jun2006, Vol. 3 Issue 6, pe177 

    Background: Ebola virus causes a hemorrhagic fever syndrome that is associated with high mortality in humans. In the absence of effective therapies for Ebola virus infection, the development of a vaccine becomes an important strategy to contain outbreaks. Immunization with DNA...

  • Genetic variations in the receptor-ligand pair CCR5 and CCL3L1 are important determinants of susceptibility to Kawasaki disease. Burns, Jane C.; Shimizu, Chisato; Gonzalez, Enrique; Kulkarni, Hemant; Patel, Sukeshi; Shike, Hiroko; Sundel, Robert S.; Newburger, Jane W.; Ahuja, Sunil K. // Journal of Infectious Diseases;7/15/2005, Vol. 192 Issue 2, p344 

    Kawasaki disease (KD) is an enigmatic, self-limited vasculitis of childhood that is complicated by development of coronary-artery aneurysms. The high incidence of KD in Asian versus European populations prompted a search for genetic polymorphisms that are differentially distributed among these...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics