Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency

Tissue Antigens

Volumn 74, Issue 1, 2009, Pages 42-45

  Lopez Mejias R ^a   Del Pozo, N ^a   Fernandez Arquero M ^a   Ferreira, A ^b   Garcia Rodriguez M C ^b   De La Concha, E G ^a   Fontan G ^b   Urcelay, E ^a   Martinez A ^a   Nunez C ^a  

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Disease susceptibility; Selective immunoglobulin A deficiency; Single nucleotide polymorphism; Transmembrane activator and calcium modulator and cyclophilin ligand interactor

Indexed keywords

TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR;

ARTICLE; CONTROLLED STUDY; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; IMMUNOGLOBULIN A DEFICIENCY; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; IGA DEFICIENCY; INTRONS; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; SPAIN; TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR PROTEIN;

EID: 66949132905     PISSN: 00012815     EISSN: 13990039     Source Type: Journal    
DOI: 10.1111/j.1399-0039.2009.01253.x     Document Type: Article

References (10)

1. Cunningham-Rundles C. Physiology of IgA and IgA deficiency. J Clin Immunol 2001 : 21 : 303 9.
2. Burrows PD, Cooper MD. IgA deficiency. Adv Immunol 1997 : 65 : 245 76.
3. Kralovicova J, Hammarstrom L, Plebani A, Webster AD, 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 2003 : 170 : 2765 75.
4. De la Concha EG, Fernandez-Arquero M, Gual L et al. MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes. J Immunol 2002 : 169 : 4637 43.
5. Schaffer FM, Palermos J, Zhu ZB, Barger BO, Cooper MD, Volanakis JE. Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes. Proc Natl Acad Sci U S A 1989 : 86 : 8015 9.
6. Litinskiy MB, Nardelli B, Hilbert DM et al. DCs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nat Immunol 2002 : 3 : 822 9.
7. Castigli E, Wilson SA, Garibyan L et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 2005 : 37 : 829 34.
8. 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 8.
9. Pan-Hammarstrom Q, Salzer U, Du L et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet 2007 : 39 : 429 30.
10. Aghamohammadi A, Mohammadi J, Parvaneh N et al. Progression of selective IgA deficiency to common variable immunodeficiency. Int Arch Allergy Immunol 2008 : 147 : 87 92.