TACI is mutant in common variable immunodeficiency and IgA deficiency (original) (raw)
Burrows, P.D. & Cooper, M.D. IgA deficiency. Adv. Immunol.65, 245–276 (1997). ArticleCAS Google Scholar
Cunningham-Rundles, C. Physiology of IgA and IgA deficiency. J. Clin. Immunol.21, 303–309 (2001). ArticleCAS Google Scholar
Di Renzo, M., Pasqui, A.L. & Auteri, A. Common variable immunodeficiency: a review. Clin. Exp. Med.3, 211–217 (2004). ArticleCAS Google Scholar
Kokron, C.M. et al. Clinical and laboratory aspects of common variable immunodeficiency. An. Acad. Bras. Cienc.76, 707–726 (2004). Article Google Scholar
Schroeder, H.W. Jr. Genetics of IgA deficiency and common variable immunodeficiency. Clin. Rev. Allergy Immunol.19, 127–140 (2000). ArticleCAS Google Scholar
Cunningham-Rundles, C., Cooper, D.L., Duffy, T.P. & Strauchen, J. Lymphomas of mucosal-associated lymphoid tissue in common variable immunodeficiency. Am. J. Hematol.69, 171–178 (2002). ArticleCAS Google Scholar
Weston, S.A., Prasad, M.L., Mullighan, C.G., Chapel, H. & Benson, E.M. Assessment of male CVID patients for mutations in the Btk gene: how many have been misdiagnosed? Clin. Exp. Immunol.124, 465–469 (2001). ArticleCAS Google Scholar
Eastwood, D. et al. Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. Clin. Exp. Immunol.137, 584–588 (2004). ArticleCAS Google Scholar
Grimbacher, B. et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat. Immunol.4, 261–268 (2003). ArticleCAS Google Scholar
Asano, T. et al. Molecular analysis of B-cell differentiation in selective or partial IgA deficiency. Clin. Exp. Immunol.136, 284–290 (2004). ArticleCAS Google Scholar
Kaneko, H. et al. Expression of the alpha-chain gene in heterogeneous IgA immunodeficiency. Scand. J. Immunol.32, 483–489 (1990). ArticleCAS Google Scholar
Islam, K.B. et al. Molecular analysis of IgA deficiency. Evidence for impaired switching to IgA. J. Immunol.152, 1442–1452 (1994). CASPubMed Google Scholar
Schroeder, H.W. Jr ., Schroeder, H.W. III & Sheikh, S.M. The complex genetics of common variable immunodeficiency. J. Investig. Med.52, 90–103 (2004). CASPubMed Google Scholar
Grimbacher, B., Schaffer, A.A. & Peter, H.H. The genetics of hypogammaglobulinemia. Curr. Allergy Asthma Rep.4, 349–358 (2004). Article Google Scholar
Geha, R.S., Jabara, H.H. & Brodeur, S.R. The regulation of immunoglobulin E class-switch recombination. Nat. Rev. Immunol.3, 721–732 (2003). ArticleCAS Google Scholar
Litinskiy, M.B. et al. DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nat. Immunol.3, 822–829 (2002). ArticleCAS Google Scholar
Castigli, E. et al. TACI and BAFF-R mediate isotype switching in B cells. J. Exp. Med.201, 35–39 (2005). ArticleCAS Google Scholar
Ramesh, N. et al. CD40–CD40 ligand (CD40L) interactions and X-linked hyperIgM syndrome (HIGMX-1). Clin. Immunol. Immunopathol.76, S208–S213 (1995). ArticleCAS Google Scholar
Ferrari, S. et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc. Natl. Acad. Sci. USA98, 12614–12619 (2001). ArticleCAS Google Scholar
Farrington, M. et al. CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency. Proc. Natl. Acad. Sci. USA91, 1099–1103 (1994). ArticleCAS Google Scholar
Mackay, F. & Kalled, S.L. TNF ligands and receptors in autoimmunity: an update. Curr. Opin. Immunol.14, 783–790 (2002). ArticleCAS Google Scholar
MacLennan, I. & Vinuesa, C. Dendritic cells, BAFF, and APRIL: innate players in adaptive antibody responses. Immunity17, 235–238 (2002). ArticleCAS Google Scholar
Gorelik, L. et al. Normal B cell homeostasis requires B cell activation factor production by radiation-resistant cells. J. Exp. Med.198, 937–945 (2003). ArticleCAS Google Scholar
Schiemann, B. et al. An essential role for BAFF in the normal development of B cells through a BCMA-independent pathway. Science293, 2111–2114 (2001). ArticleCAS Google Scholar
von Bulow, G.U. & Bram, R.J. NF-AT activation induced by a CAML-interacting member of the tumor necrosis factor receptor superfamily. Science278, 138–141 (1997). ArticleCAS Google Scholar
Yan, M. et al. Activation and accumulation of B cells in TACI-deficient mice. Nat. Immunol.2, 638–643 (2001). ArticleCAS Google Scholar
Castigli, E. et al. Impaired IgA class switching in APRIL-deficient mice. Proc. Natl. Acad. Sci. USA101, 3903–3908 (2004). ArticleCAS Google Scholar
Hendriks, J. et al. Heparan sulfate proteoglycan binding promotes APRIL-induced tumor cell proliferation. Cell Death Differ.12, 637–648 (2005). ArticleCAS Google Scholar
Ingold, K. et al. Identification of proteoglycans as the APRIL-specific binding partners. J. Exp. Med.201, 1375–1383 (2005). ArticleCAS Google Scholar
Cunningham-Rundles, C. & Bodian, C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin. Immunol.92, 34–48 (1999). ArticleCAS Google Scholar
von Bulow, G.U. et al. Molecular cloning and functional characterization of murine transmembrane activator and CAML interactor (TACI) with chromosomal localization in human and mouse. Mamm. Genome11, 628–632 (2000). ArticleCAS Google Scholar
Hymowitz, S. 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 (2005). ArticleCAS Google Scholar
Mackay, F. & Tangye, S. The role of the BAFF/APRIL system in B cell homeostasis and lymphoid cancers. Curr. Opin. Pharmacol.4, 347–354 (2004). ArticleCAS Google Scholar
Seshasayee, D. et al. Loss of TACI causes fatal lymphoproliferation and autoimmunity, establishing TACI as an inhibitory BLyS receptor. Immunity18, 279–288 (2003). ArticleCAS Google Scholar
Volanakis, J.E. et al. Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency. J. Clin. Invest.89, 1914–1922 (1992). ArticleCAS Google Scholar
Kralovicova, J., Hammarstrom, L., Plebani, A., Webster, A.D. & 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). ArticleCAS Google Scholar
De la Concha, E.G. et al. MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes. J. Immunol.169, 4637–4643 (2002). ArticleCAS Google Scholar