iga deficiency

Summary

Summary: A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN A.

Top Publications

  1. Woof J, Kerr M. The function of immunoglobulin A in immunity. J Pathol. 2006;208:270-82 pubmed
    ..IgA function may also be perturbed in certain disease states, some of which are characterized by deposition of IgA in specific tissues. This review details current understanding of the roles played by IgA in both health and disease. ..
  2. Rachid R, Castigli E, Geha R, Bonilla F. TACI mutation in common variable immunodeficiency and IgA deficiency. Curr Allergy Asthma Rep. 2006;6:357-62 pubmed
  3. Schroeder H, Zhu Z, March R, Campbell R, Berney S, Nedospasov S, et al. Susceptibility locus for IgA deficiency and common variable immunodeficiency in the HLA-DR3, -B8, -A1 haplotypes. Mol Med. 1998;4:72-86 pubmed
    A common genetic basis for IgA deficiency (IgAD) and common variable immunodeficiency (CVID) is suggested by their occurrence in members of the same family and the similarity of the underlying B cell differentiation defects...
  4. Klemola T. Immunohistochemical findings in the intestine of IgA-deficient persons: number of intraepithelial T lymphocytes is increased. J Pediatr Gastroenterol Nutr. 1988;7:537-43 pubmed
    ..05 compared with pre-challenge specimens). The increase in IEL number in the jejunal mucosa of IgAdp probably indicates ineffective antigen exclusion. ..
  5. Wang N, Hammarstrom L. IgA deficiency: what is new?. Curr Opin Allergy Clin Immunol. 2012;12:602-8 pubmed publisher
    To summarize recent publications on clinical and genetic aspects of IgA deficiency (IgAD). Both major histocompatibility complex (MHC) and non-MHC genes contribute to susceptibility to the disease...
  6. Rodriguez A, Tjärnlund A, Ivanji J, Singh M, Garcia I, Williams A, et al. Role of IgA in the defense against respiratory infections IgA deficient mice exhibited increased susceptibility to intranasal infection with Mycobacterium bovis BCG. Vaccine. 2005;23:2565-72 pubmed
    ..Altogether, our results suggest that IgA may play a role in protection against mycobacterial infections in the respiratory tract by blocking the pathogen entrance and/or by modulating the pro-inflammatory responses...
  7. Batt R, Barnes A, Rutgers H, Carter S. Relative IgA deficiency and small intestinal bacterial overgrowth in German shepherd dogs. Res Vet Sci. 1991;50:106-11 pubmed
    ..However, it is not clear whether such a defect is directly responsible for the overgrowth, or whether there is an indirect relationship between defective local immunity and bacterial overgrowth in German shepherd dogs. ..
  8. De la Concha E, 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;169:4637-43 pubmed
    Familial predisposition to IgA deficiency (IgAD) suggests that genetic factors influence susceptibility...
  9. Pozo N, Medrano L, Cénit M, Fernandez Arquero M, Ferreira A, García Rodríguez M, et al. MSH5 is not a genetic predisposing factor for immunoglobulin A deficiency but marks the HLA-DRB1*0102 subgroup carrying susceptibility. Hum Immunol. 2010;71:861-4 pubmed publisher
    The etiology of selective IgA deficiency (IgAD) is clearly influenced by human leukocyte antigen (HLA) genetic composition, although the susceptibility observed has not been ascribed to any specific gene/s...

More Information

Publications62

  1. Borte S, Pan Hammarstrom Q, Liu C, Sack U, Borte M, Wagner U, et al. Interleukin-21 restores immunoglobulin production ex vivo in patients with common variable immunodeficiency and selective IgA deficiency. Blood. 2009;114:4089-98 pubmed publisher
    ..immunoglobulin production in B cells from patients with common variable immunodeficiency (CVID) or selective IgA deficiency (IgAD)...
  2. Gul U, Soylu S, Demiriz M. Colocalization of lichen planus and vitiligo associated with selective IgA deficiency. Skinmed. 2007;6:202-3 pubmed
    ..Melanocytes were decreased in number, and in some areas they were absent at the basal layer of epidermis. Clinical and histopathologic diagnosis were consistent with lichen planus and vitiligo (Figure 2). ..
  3. Turkbeyler I, Pehlivan Y, Comez G, Pehlivan D, Sevinc A, Kalender M, et al. Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report. Tokai J Exp Clin Med. 2011;36:29-30 pubmed
    ..Esophageal mass biopsy revealed squamous cell carcinoma type. Both malignancy and IgA deficiency have been reported literature in patients with Dubowitz syndrome...
  4. Liblau R, Caillat Zucman S, Fischer A, Bach J, Boitard C. The prevalence of selective IgA deficiency in type 1 diabetes mellitus. APMIS. 1992;100:709-12 pubmed
    A significant increase in the prevalence of selective IgA deficiency has been observed in patients with autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis...
  5. Aytekin C, Tuygun N, Gokce S, Dogu F, Ikinciogullari A. Selective IgA deficiency: clinical and laboratory features of 118 children in Turkey. J Clin Immunol. 2012;32:961-6 pubmed publisher
    Selective IgA deficiency (IgAD) is considered as the most common primary immunodeficiency...
  6. Edwards E, Razvi S, Cunningham Rundles C. IgA deficiency: clinical correlates and responses to pneumococcal vaccine. Clin Immunol. 2004;111:93-7 pubmed
    ..024). There was no relationship between a history of recurring infections and pneumococcal vaccine responses; HLA status was not related to a history of autoimmunity. ..
  7. Cataldo F, Lio D, Marino V, Scola L, Crivello A, Corazza G. Plasma cytokine profiles in patients with celiac disease and selective IgA deficiency. Pediatr Allergy Immunol. 2003;14:320-4 pubmed
    Celiac disease (CD) and selective IgA deficiency (IgAD) are frequently associated, and share the same genetic background. The aim of the present study was to evaluate both Type 1 and 2 plasma cytokine levels in CD and in CD-IgAD...
  8. Ferreira R, Pan Hammarstrom Q, Graham R, Gateva V, Fontan G, Lee A, et al. Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency. Nat Genet. 2010;42:777-80 pubmed publisher
    ..0 x 10(-4)) or random SNPs across the genome (P < 0.0001). These findings support the hypothesis that autoimmune mechanisms may contribute to the pathogenesis of IgAD. ..
  9. Pan Hammarstrom Q, Salzer U, Du L, Bjorkander J, Cunningham Rundles C, Nelson D, et al. Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency. Nat Genet. 2007;39:429-30 pubmed
  10. Stray Pedersen A, Jonsson T, Heiberg A, Lindman C, Widing E, Aaberge I, et al. The impact of an early truncating founder ATM mutation on immunoglobulins, specific antibodies and lymphocyte populations in ataxia-telangiectasia patients and their parents. Clin Exp Immunol. 2004;137:179-86 pubmed
    ..58-1.26) g/l in the other patients (P = 0.002). Among the 11 A-T patients, six had IgG2 deficiency, six had IgA deficiency (three in combination with IgG2 deficiency) and seven had low/undetectable IgE values...
  11. Aghamohammadi A, Cheraghi T, Gharagozlou M, Movahedi M, Rezaei N, Yeganeh M, et al. IgA deficiency: correlation between clinical and immunological phenotypes. J Clin Immunol. 2009;29:130-6 pubmed publisher
    b>IgA deficiency (IGAD) is the most common primary antibody deficiency. Although many affected individuals have no apparent symptom, selected patients suffer from recurrent mucosal infections, allergies, and autoimmune diseases...
  12. Cuccia Belvedere M, Monafo V, Martinetti M, Plebani A, de Paoli F, Burgio G. Recurrent extended HLA haplotypes in children with selective IgA deficiency. Tissue Antigens. 1989;34:127-32 pubmed
    ..supratypes as well as serum IgG, IgA and IgM levels were determined in 44 children and adolescents with severe IgA deficiency (serum IgA less than 5 mg/dl) and in first degree relatives...
  13. Cataldo F, Lio D, Marino V, Scola L, Crivello A, Mulè A, et al. Cytokine genotyping (TNF and IL-10) in patients with celiac disease and selective IgA deficiency. Am J Gastroenterol. 2003;98:850-6 pubmed
    Selective IgA deficiency (IgAD) and celiac disease (CD) are frequently associated and share the ancestral haplotype human leukocyte antigen (HLA)-8.1, which is characterized by a peculiar cytokine profile...
  14. Alper C, Marcus Bagley D, Awdeh Z, Kruskall M, Eisenbarth G, Brink S, et al. Prospective analysis suggests susceptibility genes for deficiencies of IgA and several other immunoglobulins on the [HLA-B8, SC01, DR3] conserved extended haplotype. Tissue Antigens. 2000;56:207-16 pubmed
    ..These observations may also help to explain the observed associations of [HLA-B8, SC01, DR3] with both IgA deficiency and common variable immunodeficiency and the common occurrence of IgG subclass deficiencies in some patients ..
  15. Borrelli M, Maglio M, Agnese M, Paparo F, Gentile S, Colicchio B, et al. High density of intraepithelial gammadelta lymphocytes and deposits of immunoglobulin (Ig)M anti-tissue transglutaminase antibodies in the jejunum of coeliac patients with IgA deficiency. Clin Exp Immunol. 2010;160:199-206 pubmed publisher
    ..Intestinal IgM anti-TG2 and immunohistochemical markers do not discriminate between IgAD and potential CD with IgAD. Therefore, the serum IgG CD-associated autoantibodies remains very important for the diagnosis of CD in IgAD...
  16. Ezeoke A. Selective IgA deficiency (SIgAD) in Eastern Nigeria. Afr J Med Med Sci. 1988;17:17-21 pubmed
    Fifteen cases of selective IgA deficiency were found among 3772 children. Six had IgA levels of 0.01 g/l both in their serum and saliva, and had associated allergic disorders...
  17. Aghamohammadi A, Mohammadi J, Parvaneh N, Rezaei N, Moin M, Espanol T, et al. Progression of selective IgA deficiency to common variable immunodeficiency. Int Arch Allergy Immunol. 2008;147:87-92 pubmed publisher
    Selective IgA deficiency (IgAD) is the most common primary immunodeficiency in Caucasians. Although it is often asymptomatic, selected patients show an increased frequency of infections, allergies and autoimmune manifestations...
  18. Schaffer F. Clinical assessment and management of abnormal IgA levels. Ann Allergy Asthma Immunol. 2008;100:280-2 pubmed publisher
  19. Schaffer F, Palermos J, Zhu Z, Barger B, Cooper M, Volanakis J. 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 pubmed
    b>IgA deficiency and common variable immunodeficiency are heritable disorders that can occur within the same family...
  20. Mohammadi J, Ramanujam R, Jarefors S, Rezaei N, Aghamohammadi A, Gregersen P, 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. 2010;30:138-43 pubmed publisher
    Selective IgA deficiency (IgAD; serum IgA concentration of <0.07 g/l) is the most common primary immunodeficiency in Caucasians with an estimated prevalence of 1/600...
  21. Castigli E, Wilson S, Garibyan L, Rachid R, Bonilla F, Schneider L, et al. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 2005;37:829-34 pubmed
    ..that 4 of 19 unrelated individuals with common variable immunodeficiency (CVID) and 1 of 16 individuals with IgA deficiency (IgAD) had a missense mutation in one allele of TNFRSF13B (encoding TACI)...
  22. Czyzewska Buczyńska A, Lewandowicz Uszyńska A, Jankowski A. [IgA, an essential part of the immune system: selected issues]. Postepy Hig Med Dosw (Online). 2006;61:38-47 pubmed
  23. Janzi M, Kull I, Sjöberg R, Wan J, Melen E, Bayat N, et al. Selective IgA deficiency in early life: association to infections and allergic diseases during childhood. Clin Immunol. 2009;133:78-85 pubmed publisher
    Selective IgA deficiency in early life is quite common in Caucasian populations, but it is unclear whether it increases the risk of infections and allergic diseases during childhood...
  24. Sekine H, Ferreira R, Pan Hammarstrom Q, Graham R, Ziemba B, de Vries S, et al. Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci U S A. 2007;104:7193-8 pubmed
    ..We also present evidence that genetic variation in MSH5 is associated with IgA deficiency and common variable immune deficiency (CVID) in humans...
  25. Jorgensen G, Gardulf A, Sigurdsson M, Sigurdardottir S, Thorsteinsdottir I, Gudmundsson S, et al. Clinical symptoms in adults with selective IgA deficiency: a case-control study. J Clin Immunol. 2013;33:742-7 pubmed publisher
    Selective IgA deficiency (SIgAD) is the most common primary immunodeficiency in Caucasians with a prevalence of 1/600 and is generally considered a mild disorder...
  26. Cunningham Rundles C. Physiology of IgA and IgA deficiency. J Clin Immunol. 2001;21:303-9 pubmed
    Although secretory immunoglobulin A (IgA) is important in mucosal immunity. selective IgA deficiency is the most common primary immunodeficiency of humans. In most cases this defect is not associated with any illness...
  27. Ballow M. Primary immunodeficiency disorders: antibody deficiency. J Allergy Clin Immunol. 2002;109:581-91 pubmed
    ..As discussed in this review, this has led to a better elucidation of the B-cell development and differentiation pathways and a more complete understanding of the pathogenesis of many of these antibody deficiencies. ..
  28. Forte W, Menezes M, Dionigi P, Bastos C. Different clinical and laboratory evolutions in ataxia-telangiectasia syndrome: report of four cases. Allergol Immunopathol (Madr). 2005;33:199-203 pubmed
    ..sequence of the most commonly observed immunocompromised conditions were in our patients, in ascending order, IgA deficiency, IgG2 deficiency and the neutrophil phagocytosis stage and common variable immunodeficiency...
  29. Standen G, Hughes I, Geddes A, Jones B, Wardrop C. Myelodysplastic syndrome with trisomy 8 in an adolescent with Fanconi anaemia and selective IgA deficiency. Am J Hematol. 1989;31:280-3 pubmed
    ..Immune function studies also identified a selective IgA deficiency. The relative importance of interacting constitutional and exogenous factors involved in the development of ..
  30. Yel L. Selective IgA deficiency. J Clin Immunol. 2010;30:10-6 pubmed publisher
    ..Most individuals with IgA deficiency are asymptomatic and identified coincidentally...
  31. Giambra V, Cianci R, Lolli S, Mattioli C, Tampella G, Cattalini M, et al. Allele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentration. J Immunol. 2009;183:8280-5 pubmed publisher
    Selective IgA deficiency (IGAD) is the most common primary immunodeficiency, yet its pathogenesis is elusive. The IG (heavy) H chain human 3' Regulatory Region harbors three enhancers and has an important role in Ig synthesis. HS1...
  32. Jacob C, Pastorino A, Fahl K, Carneiro Sampaio M, Monteiro R. Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper. J Clin Immunol. 2008;28 Suppl 1:S56-61 pubmed publisher
    Both systemic and organ-specific autoimmune diseases are major manifestations of IgA deficiency (IgAD), the most common primary immunodeficiency...
  33. Martinez A, Gual L, Fernandez Arquero M, Nogales A, Ferreira A, Garcia Rodriguez M, et al. Epistatic effects occurring among susceptibility and protective MHC genes in IgA deficiency. Genes Immun. 2003;4:316-20 pubmed
  34. Tanaka M, Seki G, Ishizawa K, Hirahashi J, Miura K, Sekine T, et al. Resolution of Henoch-Schönlein purpura nephritis after acquired IgA deficiency. Pediatr Nephrol. 2010;25:2355-8 pubmed publisher
    We report a case of Henoch-Schönlein purpura nephritis (HSPN) with acquired IgA deficiency due to parvovirus B19 infection...
  35. Kralovicova J, Hammarstrom L, Plebani A, Webster A, 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 pubmed
    Selective IgA deficiency (IgAD) and common variable immunodeficiency (CVID) are the most common primary immunodeficiencies in humans...
  36. Saghafi S, Pourpak Z, Aghamohammadi A, Pourfathollah A, Samadian A, Farghadan M, et al. Selective immunoglobulin A deficiency in Iranian blood donors: prevalence, laboratory and clinical findings. Iran J Allergy Asthma Immunol. 2008;7:157-62 pubmed publisher
    ..In this study we determined the incidence of selective IgA deficiency (SIgAD) in normal adult Iranian population. 13022 normal Iranian blood donors were included in this study...
  37. Cavallo T, Granholm N. Bacterial lipopolysaccharide induces long-lasting IgA deficiency concurrently with features of polyclonal B cell activation in normal and in lupus-prone mice. Clin Exp Immunol. 1991;84:134-8 pubmed
    ..Because immune defects are common in autoimmune diseases and IgA deficiency is prevalent in patients with systemic lupus erythematosus, we investigated: (i) whether LPS might induce IgA ..
  38. Norhagen G, Engstrom P, Hammarstrom L, Söder P, Smith C. Immunoglobulin levels in saliva in individuals with selective IgA deficiency: compensatory IgM secretion and its correlation with HLA and susceptibility to infections. J Clin Immunol. 1989;9:279-86 pubmed
    ..of IgA, IgM, and IgG were measured in unstimulated whole saliva and serum from 63 individuals with selective IgA deficiency. Values were compared with the incidence of upper respiratory tract infections, antibiotic treatments (..
  39. Klemola T, Savilahti E, Koskimies S, Pelkonen P. HLA antigens in IgA deficient paediatric patients. Tissue Antigens. 1988;32:218-23 pubmed
    ..The IgA deficiency in the patients showed significant associations with HLA A1, B8, B13, Cw6, DR3 and DR7 (P less than 0...
  40. Mohammadi J, Pourpak Z, Jarefors S, Saghafi S, Zendehdel K, Pourfathollah A, et al. Human leukocyte antigens (HLA) associated with selective IgA deficiency in Iran and Sweden. Iran J Allergy Asthma Immunol. 2008;7:209-14 pubmed publisher
    Selective IgA deficiency (IgAD) (serum IgA concentration of <0.07 g/l) is the most common primary immunodeficiency in Caucasians, with an estimated prevalence of 1/600...
  41. Suzuki H, Kaneko H, Fukao T, Jin R, Kawamoto N, Asano T, et al. Various expression patterns of alpha1 and alpha2 genes in IgA deficiency. Allergol Int. 2009;58:111-7 pubmed publisher
    b>IgA deficiency (IgAD) is the most common immunodeficiency, however the pathogenesis in most cases of IgAD is unknown...
  42. 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;39:430-1 pubmed
  43. Machulla H, Schönermarck U, Schaaf A, Müller L, 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;52:207-11 pubmed
    ..Furthermore, for the first time this study reports a positive association of IgA deficiency with DPB1 alleles. Homozygosity rate for the gene loci DRB1 and DQB1 was increased in IgA deficiency...
  44. Kawasaki Y, Suzuki J, Onishi N, Takahashi A, Isome M, Suzuki H. IgA deficiency and membranous glomerulonephritis presenting as nephrotic syndrome. Pediatr Nephrol. 2005;20:662-4 pubmed
    Selective IgA deficiency associated with glomerulonephritis is rare and no previous reports in childhood have been made of the association of IgA deficiency and membranous glomerulonephritis (MGN)...
  45. Trimis G, Athanassaki C, Kanariou M, Giannoulia Karantana A. Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia. J Postgrad Med. 2004;50:270-1 pubmed
    ..It is concluded that a normal neurological assessment must not exclude the diagnosis of A-T and delay the proper interventional measures. ..
  46. Collin P, Maki M, Keyrilainen O, Hällström O, Reunala T, Pasternack A. Selective IgA deficiency and coeliac disease. Scand J Gastroenterol. 1992;27:367-71 pubmed
    Twenty-five children and adults with concomitant coeliac disease and selective IgA deficiency are described. IgG-class reticulin antibodies were positive in 94%...
  47. Mbawuike I, Pacheco S, Acuna C, Switzer K, Zhang Y, Harriman G. Mucosal immunity to influenza without IgA: an IgA knockout mouse model. J Immunol. 1999;162:2530-7 pubmed
  48. Jorgensen G, Thorsteinsdottir I, Gudmundsson S, Hammarstrom L, Ludviksson B. Familial aggregation of IgAD and autoimmunity. Clin Immunol. 2009;131:233-9 pubmed publisher
    ..05). Autoimmune diseases are highly prevalent in individuals with IgAD and more common in their 1 degrees relatives than expected, thus, suggesting a possible common genetic component. ..
  49. Gual L, Martinez A, Fernandez Arquero M, Garcia Rodriguez M, 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;64:671-7 pubmed
    ..The results obtained also indicated that the most likely susceptibility gene in the DR7 haplotypes is either DQA1 or DRB1. ..
  50. López Mejías R, del Pozo N, Fernandez Arquero M, Ferreira A, Garcia Rodriguez M, de la Concha E, et al. Role of polymorphisms in the TNFRSF13B (TACI) gene in Spanish patients with immunoglobulin A deficiency. Tissue Antigens. 2009;74:42-5 pubmed publisher
    ..Therefore, our work seems to discard a role of TNFRSF13B mutations in IgAD, concordantly with the most recent published studies. ..
  51. Ferreira R, Pan Hammarstrom Q, Graham R, Fontan G, Lee A, Ortmann W, et al. High-density SNP mapping of the HLA region identifies multiple independent susceptibility loci associated with selective IgA deficiency. PLoS Genet. 2012;8:e1002476 pubmed publisher
    Selective IgA deficiency (IgAD; serum IgA<0.07 g/l) is the most common form of human primary immune deficiency, affecting approximately 1?600 individuals in populations of Northern European ancestry...
  52. Haimila K, Einarsdottir E, de Kauwe A, Koskinen 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;10:151-61 pubmed publisher
    b>IgA deficiency (IgAD) and common variable immunodeficiency (CVID) often co-occur in families, associating with chronic inflammatory diseases such as celiac disease (CD)...
  53. Feng L. [Epidemiological study of selective IgA deficiency among 6 nationalities in China]. Zhonghua Yi Xue Za Zhi. 1992;72:88-90, 128 pubmed
    The frequency of selective IgA deficiency (SIgAD) was determined in 33,171 Chinese distributed in six nationalities by Ouchterlony's double diffusion with 5 mg/dl as the limit of detection...