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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

IgA Deficiency

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Disease relevance of IgA Deficiency


High impact information on IgA Deficiency

  • In addition, the mean IgE concentration was significantly elevated in patients with selective IgA deficiency, many of whom were atopic, and in those with the Wiskott-Aldrich syndrome [6].
  • We looked at 4 patients with severe and unusual infections in whom MBP gene mutations were the only identified cause of immunodeficiency and one patient with combined MBP and IgA deficiency [7].
  • The only case that was missed had selective IgA deficiency and was positive for IgG-class reticulin antibodies [8].
  • Captopril-induced IgA deficiency [9].
  • In the third generation, one member died of PBC, and a second individual has both symptomatic PBC and selective immunoglobulin A (IgA) deficiency, an association not previously reported [2].

Chemical compound and disease context of IgA Deficiency


Biological context of IgA Deficiency


Anatomical context of IgA Deficiency


Gene context of IgA Deficiency

  • Apart from elevated production of TNF-alpha, no other abnormalities in cytokine synthesis in selective IgA deficiency were observed [24].
  • Patients with serologic abnormalities (e.g., partial IgA deficiency, partial IgG subclass deficiency) produced more IL-2 and IL-4 than did other patients [25].
  • The findings were also consistent with possible overrepresentation of other MHC haplotypes with aberrant C4 gene organization in IgA deficiency [18].
  • In the present study we determined the HLA-A, B and DR antigenic and haplotypic frequencies in unrelated Brazilian Caucasian paediatric patients with IgA deficiency (IgA-D) [26].
  • Homozygosity rate for the gene loci DRB1 and DQB1 was increased in IgA deficiency [27].

Analytical, diagnostic and therapeutic context of IgA Deficiency


  1. TACI is mutant in common variable immunodeficiency and IgA deficiency. Castigli, E., Wilson, S.A., Garibyan, L., Rachid, R., Bonilla, F., Schneider, L., Geha, R.S. Nat. Genet. (2005) [Pubmed]
  2. Selective immunoglobulin A deficiency associated with primary biliary cirrhosis in a family with liver disease. James, S.P., Jones, E.A., Schafer, D.F., Hoofnagle, J.H., Varma, R.R., Strober, W. Gastroenterology (1986) [Pubmed]
  3. Letter: Selective IgA deficiency and idiopathic thrombocytopenic purpura. Brouet, J.C., Seligmann, M. Lancet (1976) [Pubmed]
  4. Use of low concentrations of human IgA anti-tissue transglutaminase to rule out selective IgA deficiency in patients with suspected celiac disease. Fernández, E., Blanco, C., García, S., Dieguez, A., Riestra, S., Rodrigo, L. Clin. Chem. (2005) [Pubmed]
  5. Identification of selective immunoglobulin a deficiency by renal biopsy. Liu, K., Wigfall, D.R., Harland, R.C., Sanfilippo, F.P., Howell, D.N. Am. J. Kidney Dis. (1995) [Pubmed]
  6. Serum IgD and IgE concentrations in immunodeficiency diseases. Buckley, R.H., Fiscus, S.A. J. Clin. Invest. (1975) [Pubmed]
  7. Mannose binding protein gene mutations associated with unusual and severe infections in adults. Summerfield, J.A., Ryder, S., Sumiya, M., Thursz, M., Gorchein, A., Monteil, M.A., Turner, M.W. Lancet (1995) [Pubmed]
  8. Serological markers and HLA genes among healthy first-degree relatives of patients with coeliac disease. Mäki, M., Holm, K., Lipsanen, V., Hällström, O., Viander, M., Collin, P., Savilahti, E., Koskimies, S. Lancet (1991) [Pubmed]
  9. Captopril-induced IgA deficiency. Hammarström, L., Smith, C.I., Berg, C.I. Lancet (1991) [Pubmed]
  10. IgA deficiency, epilepsy, and phenytoin treatment. Seager, J., Jamison, D.L., Wilson, J., Hayward, A.R., Soothill, J.F. Lancet (1975) [Pubmed]
  11. Letter: Selective IgA deficiency. Dalderup, L.M., Freni, S.C., Bras, G., Bronckhorst, F.B. Lancet (1976) [Pubmed]
  12. Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Cowan, M.J., Wara, D.W., Packman, S., Ammann, A.J., Yoshino, M., Sweetman, L., Nyhan, W. Lancet (1979) [Pubmed]
  13. Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes. Schaffer, F.M., Palermos, J., Zhu, Z.B., Barger, B.O., Cooper, M.D., Volanakis, J.E. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  14. Meningococcal group Y pneumonia in an adolescent female. Hersh, J.H., Gold, R., Lepow, M.L. Pediatrics (1979) [Pubmed]
  15. 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]
  16. Primary antibody deficiency in Arabs: first report from eastern Saudi Arabia. al-Attas, R.A., Rahi, A.H. J. Clin. Immunol. (1998) [Pubmed]
  17. Neutrophil dysfunction and increased susceptibility to infection. Ottonello, L., Dapino, P., Pastorino, G., Dallegri, F., Sacchetti, C. Eur. J. Clin. Invest. (1995) [Pubmed]
  18. C4 polymorphism and major histocompatibility complex haplotypes in IgA deficiency: association with C4A null haplotypes. Bućin, D., Truedsson, L., Hammarström, L., Smith, C.I., Sjöholm, A.G. Exp. Clin. Immunogenet. (1991) [Pubmed]
  19. Altered expression of lymphocyte Fc alpha receptor in selective IgA deficiency and IgA nephropathy. Adachi, M., Yodoi, J., Masuda, T., Takatsuki, K., Uchino, H. J. Immunol. (1983) [Pubmed]
  20. Response of rheumatoid arthritis to chemotherapy for Hodgkin's disease in a patient with IgA deficiency and overlap connective tissue disease. Cohen, M.G., Janssen, B., Webb, J. Ann. Rheum. Dis. (1988) [Pubmed]
  21. Bacterial lipopolysaccharide induces long-lasting IgA deficiency concurrently with features of polyclonal B cell activation in normal and in lupus-prone mice. Cavallo, T., Granholm, N.A. Clin. Exp. Immunol. (1991) [Pubmed]
  22. Analysis of IgG subclass production in cell cultures from IgA deficient patients and in normal controls as a function of age. Luzi, G., Kubagawa, H., Crain, M.J., Cooper, M.D. Clin. Exp. Immunol. (1986) [Pubmed]
  23. Secretory component, alpha 1-antitrypsin and lysozyme in IgA deficient children. An immunohistochemical evaluation of intestinal mucosa. Dura, W.T., Bernatowska, E. Histopathology (1984) [Pubmed]
  24. Cytokine production in transient hypogammaglobulinemia and isolated IgA deficiency. Kowalczyk, D., Mytar, B., Zembala, M. J. Allergy Clin. Immunol. (1997) [Pubmed]
  25. Cell-mediated immune status of children with recurrent infection. Herrod, H.G., Blaiss, M.S., Valenski, W.R., Gross, S. J. Pediatr. (1995) [Pubmed]
  26. HLA antigens and haplotypes in IgA-deficient Brazilian paediatric patients. Gerbase-Delima, M., Pinto, L.C., Grumach, A., Carneiro-Sampaio, M.M. Eur. J. Immunogenet. (1998) [Pubmed]
  27. HLA-A, B, Cw and DRB1, DRB3/4/5, DQB1, DPB1 frequencies in German immunoglobulin A-deficient individuals. MacHulla, H.K., Schönermarck, U., Schaaf, A., Müller, L.P., Kloss, C., Krüger, J., Kunze, G., Schönermarck, G., Langner, J. Scand. J. Immunol. (2000) [Pubmed]
  28. Human tissue transglutaminase enzyme linked immunosorbent assay outperforms both the guinea pig based tissue transglutaminase assay and anti-endomysium antibodies when screening for coeliac disease. Wolters, V., Vooijs-Moulaert, A.F., Burger, H., Brooimans, R., De Schryver, J., Rijkers, G., Houwen, R. Eur. J. Pediatr. (2002) [Pubmed]
  29. Immunoglobulin A (IgA) deficiency and alternative celiac disease-associated antibodies in sera submitted to a reference laboratory for endomysial IgA testing. Prince, H.E., Norman, G.L., Binder, W.L. Clin. Diagn. Lab. Immunol. (2000) [Pubmed]
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