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Gene Review

IGAD1  -  immunoglobulin A (IgA) deficiency...

Homo sapiens

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Disease relevance of IGAD1


High impact information on IGAD1

  • Here we show an increased allele sharing at 6p21 in affected members of 83 multiplex IgAD/CVID pedigrees and demonstrate, using transmission/diseqilibrium tests, family-based associations indicating the presence of a predisposing locus, designated "IGAD1," in the proximal part of the major histocompatibility complex (MHC) [2].
  • The differential parent-of-origin penetrance is proposed to reflect a maternal effect mediated by the production of anti-IgA antibodies tentatively linked to IGAD1 [2].
  • 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 [3].
  • Previous genetic linkage, case-control, and family-based association studies mapped an IgAD/CVID susceptibility locus, designated IGAD1, to the MHC, but its precise location within the MHC has been controversial [3].
  • Haplotype analysis, linkage disequilibrium, and homozygosity mapping indicated that HLA-DQ/DR is the major IGAD1 locus, strongly suggesting the autoimmune pathogenesis of IgAD/CVID [3].

Biological context of IGAD1

  • Microsatellite markers were placed onto the physical map of IGAD1 to establish their order and permit rapid haplotype analyses [1].
  • Although these results do not exclude the presence of a minor predisposing locus on this chromosome, such a putative locus would confer a population risk of developing IgAD/CVID much lower than IGAD1 [4].
  • Most studies support a polygenic inheritance with a susceptibility locus (designated IGAD1) in the MHC, but its exact location is still controversial [5].
  • Analysis of a larger sample of patients will be needed to determine if the specific mutations are associated with a particular phenotype or predisposition to the common features of CVID and IGAD: autoimmunity, lymphoproliferation, or malignancy [6].


  1. 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. Vorechovský, I., Cullen, M., Carrington, M., Hammarström, L., Webster, A.D. J. Immunol. (2000) [Pubmed]
  2. Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition. Vorechovský, I., Webster, A.D., Plebani, A., Hammarström, L. Am. J. Hum. Genet. (1999) [Pubmed]
  3. 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. Kralovicova, J., Hammarström, L., Plebani, A., Webster, A.D., Vorechovsky, I. J. Immunol. (2003) [Pubmed]
  4. A putative susceptibility locus on chromosome 18 is not a major contributor to human selective IgA deficiency: evidence from meiotic mapping of 83 multiple-case families. Vorechovský, I., Blennow, E., Nordenskjöld, M., Webster, A.D., Hammarström, L. J. Immunol. (1999) [Pubmed]
  5. MHC susceptibility genes to IgA deficiency are located in different regions on different HLA haplotypes. De la Concha, E.G., Fernandez-Arquero, M., Gual, L., Vigil, P., Martinez, A., Urcelay, E., Ferreira, A., Garcia-Rodriguez, M.C., Fontan, G. J. Immunol. (2002) [Pubmed]
  6. TACI mutation in common variable immunodeficiency and IgA deficiency. Rachid, R., Castigli, E., Geha, R.S., Bonilla, F.A. Current allergy and asthma reports. (2006) [Pubmed]
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