The murine equivalent of the A181E TACI mutation associated with common variable immunodeficiency severely impairs B-cell function

Blood

Volumn 114, Issue 11, 2009, Pages 2254-2262

  Lee, John J ^a   Rauter, Ingrid ^a   Garibyan, Lilit ^a   Ozcan, Esra ^a   Sannikova, Tatyana ^a   Dillon, Stacey R ^b   Cruz, Anthony C ^c   Siegel, Richard M ^c   Bram, Richard ^d   Jabara, Haifa ^a   Geha, Raif S ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b ZYMOGENETICS INC   (United States)

^c NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^d MAYO GRADUATE SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIGEN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; IMMUNOGLOBULIN G1; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR; DRUG DERIVATIVE; FICOLL; IMMUNOGLOBULIN G; NITROBENZENE DERIVATIVE; TNFRSF13B PROTEIN, HUMAN; TNFRSF13B PROTEIN, MOUSE; TNP FICOLL; TNP-FICOLL;

ANIMAL CELL; ANIMAL EXPERIMENT; ARTICLE; B LYMPHOCYTE; CELL LINE; CELL PROLIFERATION; COMMON VARIABLE IMMUNODEFICIENCY; FLUORESCENCE RESONANCE ENERGY TRANSFER; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOGLOBULIN BLOOD LEVEL; LIGAND BINDING; MOUSE; MUTANT; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; TRANSGENIC MOUSE; AMINO ACID SUBSTITUTION; ANIMAL; BLOOD; GENETICS; IMMUNOLOGY; METABOLISM; MISSENSE MUTATION; MOUSE MUTANT; PROTEIN TERTIARY STRUCTURE;

AMINO ACID SUBSTITUTION; ANIMALS; B-LYMPHOCYTES; COMMON VARIABLE IMMUNODEFICIENCY; FICOLL; FLUORESCENCE RESONANCE ENERGY TRANSFER; HUMANS; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; MICE; MICE, KNOCKOUT; MUTATION, MISSENSE; NF-KAPPA B; PROTEIN STRUCTURE, TERTIARY; SIGNAL TRANSDUCTION; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR PROTEIN; TRINITROBENZENES;

EID: 70349561843     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2008-11-189720     Document Type: Article

References (32)

1. Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92(1):34-48. (Pubitemid 29315984)
2. Di Renzo M, Pasqui AL, Auteri A. Common variable immunodeficiency: a review. Clin Exp Med. 2004;3(4):211-217.
3. Schroeder HW Jr, Schroeder HW III, Sheikh SM. The complex genetics of common variable immunodeficiency. J Investig Med. 2004;52(2):90-103. (Pubitemid 38387756)
4. Dillon SR, Gross JA, Ansell SM, Novak AJ. An APRIL to remember: novel TNF ligands as therapeutic targets. Nat Rev Drug Discov. 2006;5(3):235-246.
5. Mackay F, Schneider P, Rennert P, Browning J. BAFF AND APRIL: a tutorial on B cell survival. Annu Rev Immunol. 2003;21:231-264. (Pubitemid 37174532)
6. Castigli E, Wilson SA, Garibyan L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005;37(8):829-834. (Pubitemid 41077108)
7. Salzer U, Chapel HM, Webster AD, et al. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet. 2005;37(8):820-828. (Pubitemid 41077107)
8. Zhang L, Radigan L, Salzer U, et al. Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes. J Allergy Clin Immunol. 2007;120(5):1178-1185. (Pubitemid 350047480)
9. von Bülow GU, Russell H, Copeland NG, Gilbert DJ, Jenkins NA, Bram RJ. Molecular cloning and functional characterization of murine transmembrane activator and CAML interactor (TACI) with chromosomal localization in human and mouse. Mamm Genome. 2000;11(8):628-632. (Pubitemid 30622251)
10. Hymowitz SG, Patel DR, Wallweber HJ, et al. Structures of APRIL-receptor complexes: like BCMA, TACI employs only a single cysteine-rich domain for high affinity ligand binding. J Biol Chem. 2005;280(8):7218-7227.
11. von Bulow GU, Bram RJ. NF-AT activation induced by a CAML-interacting member of the tumor necrosis factor receptor superfamily. Science. 1997;278(5335):138-141.
12. Castigli E, Wilson SA, Scott S, et al. TACI and BAFF-R mediate isotype switching in B cells. J Exp Med. 2005;201(1):35-39. (Pubitemid 40130081)
13. Litinskiy MB, Nardelli B, Hilbert DM, et al. DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nat Immunol. 2002;3(9):822-829. (Pubitemid 35049432)
14. von Bülow GU, van Deursen JM, Bram RJ. Regulation of the T-independent humoral response by TACI. Immunity. 2001;14(5):573-582.
15. Yan M, Wang H, Chan B, et al. Activation and accumulation of B cells in TACI-deficient mice. Nat Immunol. 2001;2(7):638-643. (Pubitemid 32677632)
16. Castigli E, Wilson SA, Elkhal A, Ozcan E, Garibyan L, Geha RS. Transmembrane activator and calcium modulator and cyclophilin ligand interactor enhances CD40-driven plasma cell differentiation. J Allergy Clin Immunol. 2007;120(4):885-891. (Pubitemid 47531843)
17. Katsenelson N, Kanswal S, Puig M, Mostowski H, Verthelyi D, Akkoyunlu M. Synthetic CpG oligodeoxynucleotides augment BAFF- and APRIL-mediated immunoglobulin secretion. Eur J Immunol. 2007;37(7):1785-1795. (Pubitemid 47065118)
18. Garibyan L, Lobito AA, Siegel RM, Call ME, Wucherpfennig KW, Geha RS. Dominant-negative effect of the heterozygous C104R TACI mutation in common variable immunodeficiency (CVID). J Clin Invest. 2007;117(6):1550-1557. (Pubitemid 46871339)
19. Siegel RM, Frederiksen JK, Zacharias DA, et al. Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. Science. 2000;288(5475):2354-2357.
20. Siegel RM, Chan FK, Zacharias DA, et al. Measurement of molecular interactions in living cells by fluorescence resonance energy transfer between variants of the green fluorescent protein. Sci STKE. 2000;2000(38):PL1.
21. Jabara H, Laouini D, Tsitsikov E, et al. The binding site for TRAF2 and TRAF3 but not for TRAF6 is essential for CD40-mediated immunoglobulin class switching. Immunity. 2002;17(3):265-276. (Pubitemid 35279548)
22. Shaw AC, Swat W, Ferrini R, Davidson L, Alt FW. Activated Ras signals developmental progression of recombinase-activating gene (RAG)-deficient pro-B lymphocytes. J Exp Med. 1999;189(1):123-129. (Pubitemid 29047032)
23. Spergel J, Mizoguchi E, Brewer J, Martin T, Bhan A, Geha R. Epicutaneous sensitization with protein antigen induces localized allergic dermatitis and hyperresponsiveness to metacholine after single exposure to aerosolized antigen in mice. J Clin Invest. 1998;101(8):1614-1622. (Pubitemid 28198490)
24. Zhang G. Tumor necrosis factor family ligand-receptor binding. Curr Opin Struct Biol. 2004;14(2):154-160. (Pubitemid 38490781)
25. Chan FK, Chun HJ, Zheng L, Siegel RM, Bui KL, Lenardo MJ. A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling. Science. 2000;288(5475):2351-2354. (Pubitemid 30448156)
26. Bossen C, Cachero TG, Tardivel A, et al. TACI, unlike BAFF-R is solely activated by oligomeric BAFF and APRIL to support survival of activated B cells and plasmablasts. Blood. 2008;111(3):1004-1012. (Pubitemid 351213377)
27. Castigli E, Scott S, Dedeoglu F, et al. Impaired IgA class switching in APRIL-deficient mice. Proc Natl Acad Sci U S A. 2004;101(11):3903-3908. (Pubitemid 38381075)
28. Zhang X, Park CS, Yoon SO, et al. BAFF supports human B cell differentiation in the lymphoid follicles through distinct receptors. Int Immunol. 2005;17(6):779-788. (Pubitemid 41417976)
29. Treml LS, Carlesso G, Hoek KL, et al. TLR stimulation modifies BLyS receptor expression in follicular and marginal zone B cells. J Immunol. 2007;178(12):7531-7539. (Pubitemid 46898021)
30. Seshasayee D, Valdez P, Yan M, Dixit VM, Tumas D, Grewal IS. Loss of TACI causes fatal lymphoproliferation and autoimmunity, establishing TACI as an inhibitory BLyS receptor. Immunity. 2003;18(2):279-288. (Pubitemid 36263002)
31. Bargmann CI, Hung MC, Weinberg RA. Multiple independent activations of the neu oncogene by a point mutation altering the transmembrane domain of p185. Cell. 1986;45(5):649-657.
32. Shiang R, Thompson LM, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994;78(2):335-342. (Pubitemid 24241100)