TACI mutation in common variable immunodeficiency and IgA deficiency

Current Allergy and Asthma Reports

Volumn 6, Issue 5, 2006, Pages 357-362

  Rachid, Rima ^a   Castigli, Emanuela ^b   Geha, Raif S ^b   Bonilla, Francisco A ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BRUTON TYROSINE KINASE; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; PROTEIN TACI; SIGNALING LYMPHOCYTE ACTIVATION MOLECULE ASSOCIATED PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR; UNCLASSIFIED DRUG;

AUTOIMMUNITY; CLINICAL FEATURE; COMMON VARIABLE IMMUNODEFICIENCY; ENVIRONMENTAL FACTOR; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE MUTATION; GENE SWITCHING; GENETIC CODE; GENETIC PREDISPOSITION; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; HUMAN; IMMUNOGLOBULIN A DEFICIENCY; LYMPHOPROLIFERATIVE DISEASE; MALIGNANT NEOPLASTIC DISEASE; MISSENSE MUTATION; NONHUMAN; NONSENSE MUTATION; PATHOPHYSIOLOGY; REVIEW;

ANIMALS; COMMON VARIABLE IMMUNODEFICIENCY; HUMANS; IGA DEFICIENCY; IMMUNOGLOBULIN CLASS SWITCHING; MUTATION; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR PROTEIN;

EID: 33748419782     PISSN: 15297322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11882-996-0004-9     Document Type: Review

References (36)

1. Cunningham-Rundles C: Clinical and immunologic analysis of 103 patients with common variable immunodeficiency. J Clin Immunol 1989, 9:22-23.
2. Cunningham-Rundles C, Bodian C: Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol 1999, 2:34-48.
3. Hammarstrom L, Vorechovsky I, Webster D: Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID). Clin Exp Immunol 2000, 120:225-231.
4. Ochs H, Winkelstein J: Disorders of the B-cell system. In Immunologic Disorders in Infants and Children. Edited by Stiehm R. Philadelphia: WB Saunders; 1996:296-338.
5. Cunningham-Rundles C, Siegal FP, Cunningham-Rundles S, et al.: Incidence of cancer in 98 patients with common varied immunodeficiency. J Clin Immunol 1987, 7:294-299.
6. Majolini MB, D'Elios MM, Boncristiano M, et al.: Uncoupling of T-cell antigen receptor and downstream protein tyrosine kinases in common variable immunodeficiency. Clin Immunol Immunopathol 1997, 84:98-102.
7. Ferrer JM, Iglesias J, Hernandez M, et al.: Alterations in interleukin secretion (IL-2 and IL-4) by CD4 and CD4 CD45RO cells from common variable immunodeficiency (CVI) patients. Clin Exp Immunol 1995, 102:286-289.
8. Warnatz K, Denz A, Drager R, et al.: Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease. Blood 2002, 99:1544-1551.
9. Andersen P, Permin H, Andersen V, et al.: Deficiency of somatic hypermutation of the antibody light chain is associated with increased frequency of severe respiratory tract infection in common variable immunodeficiency. Blood 2005, 105:511-517.
10. Inoue Y, Kondo N, Motoyoshi F, et al.: Abnormal responses of common variable immunodeficiency patients' B cells to Staphylococcus aureus Cowan I and interleukin-2. Acta Paediatr 1993, 82:404-407.
11. Cunningham-Rundles C, Radigan L, Knight AK, et al.: TLR9 activation is defective in common variable immune deficiency. J Immunol 2006, 176:1978-1987.
12. Farrington M, Grosmaire LS, Nonoyama S, et al.: CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency. Proc Natl Acad Sci U S A 1994, 91:1099-1103.
13. Cunningham-Rundles C: Disorders of the IgA system. In Immunologic Disorders in Infants and Children. Edited by Stiehm R. Philadelphia: WB Saunders; 1996:423-442.
14. Ashman RF, Schaffer FM, Kemp JD, et al.: Genetic and immunologic analysis of a family containing five patients with common-variable immune deficiency or selective IgA deficiency. J Clin Immunol 1992, 12:406-414.
15. Rosner F, Vallejo V, Khan FA, et al.: Hypogammaglobulinemia and selective immunoglobulin A deficiency. Double consanguinity in family. N Y State J Med 1978, 78:1459-1463.
16. Espanol T, Catala M, Hernandez M, et al.: Development of a common variable immunodeficiency in IgA-deficient patients. Clin Immunol Immunopathol 1996, 80:333-335.
17. Weston SA, Prasad ML, Mullighan CG, et al.: Assessment of male CVID patients for mutations in the Btk gene: How many have been misdiagnosed? Clin Exp Immunol 2001, 124:465-469.
18. Eastwood D, Gilmour KC, Nistala K, et al.: Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. Clin Exp Immunol 2004, 137:584-588.
19. Nistala K, Gilmour KC, Cranston T, et al.: X-linked lymphoproliferative disease: three atypical cases. Clin Exp Immunol 2001, 126:126-130.
20. Grimbacher B, Hutloff A, Schlesier M, et al.: Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol 2003, 4:261-268.
21. Salzer U, Maul-Pavicic A, Cunningham-Rundles C, et al.: ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol 2004, 113:234-240.
22. Kralovicova J, Hammarstrom L, Plebani A, et al.: 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 2003, 170:2765-2775.
23. De la Concha EG, Fernandez-Arquero M, Gual L: MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes. J Immunol. 2002, 169:4637-43.
24. Castigli E, Wilson SA, Garibyan L, et al.: TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005, 37:829-834.
25. Salzer U, Chapel HM, Webster AD, et al.: Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 2005, 37.820-828.
26. Geha RS, Jabara HH, Brodeur SR: The regulation of immunoglobulin E class-switch recombination. Nat Rev Immunol 2003, 3:721-732.
27. Litinskiy MB, Nardelli B, Hilbert DM, et al.: DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nat Immunol 2002, 3:822-829.
28. Ramesh N, Morio T, Fuleihan R, et al.: CD40-CD40 ligand (CD40L) interactions and X-linked hyperIgM syndrome (HIGMX-1). Clin Immunol Immunopathol 1995, 76: S208-S213.
29. Mackay F, Kalled SL: TNF ligands and receptors in autoimmunity: an update. Curr Opin Immunol 2002, 14:783-790.
30. MacLennan I, Vinuesa C: Dendritic cells, BAFF, and APRIL: innate players in adaptive antibody responses. Immunity 2002, 17:235-238.
31. Gorelik L, Gilbride K, Dobles M: Normal B cell homeostasis requires B cell activation factor production by radiation-resistant cells. J Exp Med 2003, 198:937-945.
32. Schiemann B, Gommerman JL, Vora K, et al.: An essential role for BAFF in the normal development of B cells through a BCMA-independent pathway. Science 2001, 293:2111-2114.
33. Yan M, Wang H, Chan B, et al.: Activation and accumulation of B cells in TACI-deficient mice. Nat Immunol 2001, 2:638-643.
34. Castigli E, Scott S, Dedeoglu F, et al.: Impaired IgA class switching in APRIL-deficient mice. Proc Natl Acad Sci U S A 2004, 101:3903-3908.
35. Von Bulow GU, Bram RJ: NF-AT activation induced by a CAML-interacting member of the tumor necrosis factor receptor superfamily. Science 1997, 278:138-1341.
36. Castigli E, Wilson SA, Scott S, et al.: TACI and BAFF-R mediate isotype switching in B cells. J Exp Med 2005, 201:35-39.