Functional analysis of transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) mutations associated with common variable immunodeficiency

Journal of Allergy and Clinical Immunology

Volumn 128, Issue 1, 2011, Pages 226-228.e1

  Fried, Ari J ^a   Rauter, Ingrid ^a   Dillon, Stacey R ^b   Jabara, Haifa H ^a   Geha, Raif S ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b ZYMOGENETICS INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MESSENGER RNA; MUTANT PROTEIN; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR;

B LYMPHOCYTE; CELL FUNCTION; COMMON VARIABLE IMMUNODEFICIENCY; GENETIC CODE; HUMAN; LETTER; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL;

EID: 79959849460     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2011.01.048     Document Type: Article

References (10)

1. E. Castigli, S.A. Wilson, L. Garibyan, R. Rachid, F. Bonilla, and L. Schneider TACI is mutant in common variable immunodeficiency and IgA deficiency Nat Genet 37 2005 829 834 (Pubitemid 41077108)
2. U. Salzer, H.M. Chapel, A.D. Webster, Q. Pan-Hammarstrom, A. Schmitt-Graeff, and M. Schlesier Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans Nat Genet 37 2005 820 828 (Pubitemid 41077107)
3. U. Salzer, C. Bacchelli, S. Buckridge, Q. Pan-Hammarstrom, S. Jennings, and V. Lougaris Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes Blood 113 2009 1967 1976
4. Q. Pan-Hammarstrom, U. Salzer, L. Du, J. Bjorkander, C. Cunningham-Rundles, and D.L. Nelson Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency Nat Genet 39 2007 429 430 (Pubitemid 46514756)
5. E. Castigli, S. Wilson, L. Garibyan, R. Rachid, F. Bonilla, and L. Schneider Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency Nat Genet 39 2007 430 431 (Pubitemid 46514757)
6. L. Garibyan, A.A. Lobito, R.M. Siegel, M.E. Call, K.W. Wucherpfennig, and R.S. Geha Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID) J Clin Invest 117 2007 1550 1557 (Pubitemid 46871339)
7. J.J. Lee, H.H. Jabara, L. Garibyan, I. Rauter, T. Sannikova, and S.R. Dillon The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency J Allergy Clin Immunol 126 2010 1234-41 e2
8. K. Warnatz, U. Salzer, M. Rizzi, B. Fischer, S. Gutenberger, and J. Bohm B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans Proc Natl Acad Sci U S A 106 2009 13945 13950
9. J.E. Yu, A.K. Knight, L. Radigan, T.U. Marron, L. Zhang, and S. Sanchez-Ramon Toll-like receptor 7 and 9 defects in common variable immunodeficiency J Allergy Clin Immunol 124 2009 349-56, e1-3
10. C. Cunningham-Rundles, L. Radigan, A.K. Knight, L. Zhang, L. Bauer, and A. Nakazawa TLR9 activation is defective in common variable immune deficiency J Immunol 176 2006 1978 1987 (Pubitemid 43134344)