Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans

Nature Genetics

Volumn 37, Issue 8, 2005, Pages 820-828

  Salzer, U ^a   Chapel, H M ^b   Webster, A D B ^c   Pan Hammarstrom Q ^d   Schmitt Graeff, A ^e   Schlesier, M ^a   Peter, H H ^a   Rockstroh, J K ^f   Schneider, P ^g   Schaffer A A ^h   Hammarstrom L ^d   Grimbacher, B ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c ROYAL FREE HOSPITAL   (United Kingdom)

^d KAROLINSKA INSTITUTE   (Sweden)

^e UNIVERSITY OF FREIBURG   (Germany)

^f UNIVERSITY HOSPITAL BONN   (Germany)

^g UNIVERSITY OF LAUSANNE   (Switzerland)

^h NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ANTIBODY; APRIL PROTEIN; B CELL ACTIVATING FACTOR; B CELL MATURATION PROTEIN A; DNA; HLA ANTIGEN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN M; INTERLEUKIN 10; MESSENGER RNA; TRANSMEMBRANE ACTIVATOR AND CALCIUM MODULATOR AND CYCLOPHILIN LIGAND INTERACTOR; TUMOR NECROSIS FACTOR RECEPTOR; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOIMMUNITY; B LYMPHOCYTE; CLINICAL ARTICLE; COMMON VARIABLE IMMUNODEFICIENCY; CONTROLLED STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HLA TYPING; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMORAL IMMUNITY; IMMUNOHISTOCHEMISTRY; LYMPHOCYTE PROLIFERATION; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; PROTEIN BINDING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

AMINO ACID SEQUENCE; ANTIBODY FORMATION; CELL DIVISION; COMMON VARIABLE IMMUNODEFICIENCY; FEMALE; HOMOZYGOTE; HUMANS; IMMUNOGLOBULIN M; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; PEDIGREE; RECEPTORS, TUMOR NECROSIS FACTOR; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR PROTEIN;

EID: 23044443492     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1600     Document Type: Article

References (41)

1. Mackay, F. & Ambrose, C. The TNF family members BAFF and APRIL: the growing complexity. Cytokine Growth Factor Rev. 14, 311-324 (2003).
2. Mackay, F., Schneider, P., Rennert, P. & Browning, J. BAFF AND APRIL: a tutorial on B cell survival. Annu. Rev. Immunol. 21, 231-264 (2003).
3. Ng, L.G. et al. B cell-activating factor belonging to the TNF family (BAFF)-R is the principal BAFF receptor facilitating BAFF costimulation of circulating T and B cells. J. Immunol. 173, 807-817 (2004).
4. Avery, D. et al. BAFF selectively enhances the survival of plasmablasts generated from activated human memory B cells. J. Clin. Invest. 112, 286-297 (2003).
5. Wu, Y. et al. Tumor necrosis factor (TNF) receptor superfamily member TACI is a high affinity receptor for TNF family members APRIL and BlyS 275. J. Biol. Chem. 275, 35478-35485 (2000).
6. Varfolomeev, E. et al. APRIL-deficient mice have normal immune system development. Mol. Cell. Biol. 24, 997-1006 (2004).
7. Castigli, E. et al. Impaired IgA class switching in APRIL-deficient mice. Proc. Natl. Acad. Sci. USA 101, 3903-3908 (2004).
8. Litinskiy, M.B. et al. DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nat. Immunol. 3, 822-829 (2002).
9. Castigli, E. et al. TACI and BAFF-R mediate isotype switching in B cells. J. Exp. Med. 201, 35-39 (2005).
10. Schiemann, B. et al. An essential role for BAFF in the normal development of B cells through a BCMA-independent pathway. Science 293, 2111-2114 (2001).
11. Thompson, J.S. et al. BAFF-R a newly identified TNF receptor that specifically interacts with BAFF. Science 293, 2108-2111 (2001).
12. Shulga-Morskaya, S. et al. B cell-activating factor belonging to the TNF family acts through separate receptors to support B cell survival and T cell-independent antibody formation. J. Immunol. 173, 2331-2341 (2004).
13. von Bülow, G.U., van Deursen, J.M. & Bram, R.J. Regulation of the T-independent humoral response by TACI. Immunity 14, 573-582 (2001).
14. Seshasayee, D. et al. Loss of TACI causes fatal lymphoproliferation and autoimmunity, establishing TACI as an inhibitory BLyS receptor. Immunity 18, 279-288 (2003).
15. Yan, M. et al. Activation and accumulation of B cells in TACI-deficient mice. Nat. Immunol. 2, 638-643 (2001).
16. Cunningham-Rundles, C. & Bodian, C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin. Immunol. 92, 34-48 (1999).
17. Vofechovsky, I., Cullen, M., Carrington, M., Hammarström, L. & Webster, A.D.B. Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: Identification and characterization of haplotypes shared by affected members of 101 multiple-case families. J. Immunol. 164, 4408-4416 (2000).
18. Burrows, P.D. & Cooper, M.D. IgA deficiency. Adv. Immunol. 65, 245-276 (1997).
19. Grimbacher, B. et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat. Immunol. 4, 261-268 (2003).
20. Salzer, U. et al. ICOS deficiency in patients with common variable immuno-deficiency. Clin. Immunol. 113, 234-240 (2004).
21. Hymowitz, S.G. 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. 280, 7218-7227 (2004).
22. Riva, A. & Kohane, I.S. SNPper: retrieval and analysis of human SNPs. Bioinformatics 18, 1681-1685 (2002).
23. Ng, P.C. & Henikoff, S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 31, 3812-3814 (2003).
24. Ingold, K. et al. Identification of proteoglycans as APRIL-specific binding partners. J. Exp. Med. 201, 1375-1383 (2005).
25. -) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Stood 99, 1544-1551 (2002).
26. Kralovicova, J., Hammarström, L., Plebani, A., Webster, A.D.B. & Vorechovsky, I. Fine-scale mapping at IGAD1 and genome-wide genetic linkage analysis implicate HLA-DQ/DR as a major susceptibility locus in selective IgA deficiency and common variable immunodeficiency. J. Immunol. 170, 2765-2775 (2003).
27. McDermott, M.F. et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97, 133-144 (1999).
28. Ferrari, S. et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc. Natl. Acad. Sci. USA 98, 12614-12619 (2001).
29. Rieux-Laucat, F. et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science 268, 1347-1349 (1995).
30. Infante, AJ. et al. The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. J. Pediatr. 133, 629-633 (1998).
31. Fisher, G.H. et al. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 81, 935-946 (1995).
32. Holler, N. et al. Two adjacent trimeric Fas ligands are required for Fas signaling and formation of a death-inducing signaling complex. Mol. Cell. Biol. 23, 1428-1440 (2003).
33. Wu, H. Assembly of post-receptor signaling complexes for the tumor necrosis factor receptor superfamily. Adv. Protein Chem. 68, 225-279 (2004).
34. Xia, X.Z. et al. TACI is a TRAF-interacting receptor for TALL-1, a tumor necrosis factor family member involved in B cell regulation. J. Exp. Med. 192, 137-143 (2000).
35. Siegel, R.M. et al. Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. Science 288, 2354-2357 (2000).
36. Gross, J.A. et al. TACI-Ig neutralizes molecules critical for B cell development and autoimmune disease. Impaired B cell maturation in mice lacking BLyS. Immunity 15, 289-302 (2001).
37. Baker, K.P. et al. Generation and characterization of LymphoStat-B, a human monoclonal antibody that anatgonizes the bioactivities of B Lymphocyte Stimulator. Arthritis Rheum. 48, 3253-3265 (2003).
38. Hannelius, U. et al. Phenylketonuria screening registry as a resource for population genetic studies. J. Med. Genet, (in the press).
39. Pan, Q., Lindersson, Y., Sideras, P. & Hammarström, L. Structural analysis of human γ3 intervening regions and switch regions: implication for the low frequency of switching in IgG3-deficient patients. Eur. J. Immunol. 27, 2920-2926 (1997).
40. Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus analysis in humans. Proc. Natl. Acad. Sci. USA 81, 3443-3446 (1984).
41. Cottingham, R.W. Jr., Idury, R.M. & Schäffer, A.A. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53, 252-263 (1993).