MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility

Human Immunology

Volumn 71, Issue 9, 2010, Pages 861-864

  Pozo, Nadia del ^a   Medrano, Luz María ^a   Cénit, M Carmen ^a   Fernández Arquero, Miguel ^a   Ferreira, Antonio ^b   García Rodríguez, Mari Cruz ^b   de la Concha, Emilio G ^a   Urcelay, Elena ^a   Núñez, Concepción ^a  

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

Disease susceptibility; Haplotype; IgA deficiency; MSH5

Indexed keywords

HLA DR ANTIGEN;

ALLELE; ARTICLE; CHILD; DNA POLYMORPHISM; GENE; GENE FUNCTION; GENE MAPPING; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HAPLOTYPE; HLA SYSTEM; HUMAN; IMMUNOGLOBULIN A DEFICIENCY; MAJOR CLINICAL STUDY; MSH5 GENE; PRIORITY JOURNAL; TELOMERE;

ALLELES; CELL CYCLE PROTEINS; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HLA-B ANTIGENS; HLA-DQ ANTIGENS; HLA-DR ANTIGENS; HUMANS; IGA DEFICIENCY; LINKAGE DISEQUILIBRIUM; MICROSATELLITE REPEATS; PARENTS; POLYMORPHISM, GENETIC;

EID: 77956010517     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.humimm.2010.06.007     Document Type: Article

References (17)

1. Burrows P.D., Cooper M.D. IgA deficiency. Adv Immunol 1997, 65:245-276.
2. MacHulla H.K., Schonermarck U., Schaaf A., Muller L.P., Kloss C., Kruger J., et al. HLA-A, B, Cw and DRB1, DRB3/4/5, DQB1, DPB1 frequencies in German immunoglobulin A-deficient individuals. Scand J Immunol 2000, 52:207-211.
3. De la Concha E.G., Fernandez-Arquero M., Gual L., Vigil P., Martinez A., Urcelay E., et al. MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes. J Immunol 2002, 169:4637-4643.
4. Olerup O., Smith C.I., Bjorkander J., Hammarstrom L., Olsson M.L. Shared HLA class II-associated genetic susceptibility and resistance, related to the HLA-DQB1 gene, in IgA deficiency and common variable immunodeficiency. Proc Natl Acad Sci U S A 1992, 89:10653-10657.
5. Rachid R., Castigli E., Geha R.S., Bonilla F.A. TACI mutation in common variable immunodeficiency and IgA deficiency. Curr Allergy Asthma Rep 2006, 6:357-362.
6. Castigli E., Wilson S., Garibyan L., Rachid R., Bonilla F., Schneider L., et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet 2007, 39:430-431.
7. Pan-Hammarstrom Q., Salzer U., Du L., Bjorkander J., Cunningham-Rundles C., Nelson D.L., et al. Reexamining the role of TACI coding variants in Common Variable Immunodeficiency and selective IgA deficiency. Nat Genet 2007, 39:429-430.
8. del Pozo N., Lopez-Mejias R., Fernandez-Arquero M., Ferreira A., Garcia-Rodriguez M.C., de la Concha E.G., et al. Lack of evidence of a role of XBP1 and PRDM1 polymorphisms in Spanish patients with immunoglobulin A deficiency. Hum Immunol 2009, 70:950-952.
9. Lopez-Mejias R., del Pozo N., Fernandez-Arquero M., Ferreira A., Garcia-Rodriguez M.C., de la Concha E.G., et al. Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency. Tissue Antigens 2009, 74:42-45.
10. Ortiz J., Fernandez-Arquero M., Urcelay E., Lopez-Mejias R., Ferreira A., Fontan G., et al. Interleukin-10 polymorphisms in Spanish IgA deficiency patients: A case-control and family study. BMC Med Genet 2006, 7:56.
11. Nunez C., Lopez-Mejias R., Martinez A., Garcia-Rodriguez M.C., Fernandez-Arquero M., de la Concha E.G., Urcelay E. A functional PTPN22 polymorphism associated with several autoimmune diseases is not associated with IgA deficiency in the Spanish population. BMC Med Genet 2006, 7:25.
12. Lopez-Mejias R., Martinez A., Del Pozo N., Fernandez-Arquero M., Ferreira A., Urcelay E., et al. Interleukin-6 gene variation in Spanish patients with immunoglobulin-A deficiency. Hum Immunol 2008, 69:301-305.
13. Haimila K., Einarsdottir E., de Kauwe A., Koskinen L.L., Pan-Hammarstrom Q., Kaartinen T., et al. The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency. Genes Immun 2009, 10:151-161.
14. Sekine H., Ferreira R.C., Pan-Hammarstrom Q., Graham R.R., Ziemba B., de Vries S.S., et al. Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci U S A 2007, 104:7193-7198.
15. Gual L., Martinez A., Fernandez-Arquero M., Garcia-Rodriguez M.C., Ferreira A., Fontan G., et al. Major histocompatibility complex haplotypes in Spanish immunoglobulin A deficiency patients: A comparative fine mapping microsatellite study. Tissue Antigens 2004, 64:671-677.
16. Mohammadi J., Ramanujam R., Jarefors S., Rezaei N., Aghamohammadi A., Gregersen P.K., et al. IgA deficiency and the MHC: assessment of relative risk and microheterogeneity within the HLA A1 B8, DR3 (8.1) haplotype. J Clin Immunol 2009, 30:138-143.
17. Guikema J.E., Schrader C.E., Leus N.G., Ucher A., Linehan E.K., Werling U., et al. Reassessment of the role of Mut S homolog 5 in Ig class switch recombination shows lack of involvement in cis- and trans-switching. J Immunol 2008, 181:8450-8459.