HLA antigens in selective IgA deficiency: <i>Distribution in healthy donors and patients with recurrent respiratory tract infections</i>

Hammarström, Lennart; Axelsson, Uno; Bjourkander, J.; La, Hank; Möuller, Erna; Cm, Smith

doi:10.1111/j.1399-0039.1984.tb00395.x

Cited by 44 publications

(7 citation statements)

References 15 publications

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“…Multiple HLA haplotypes are known to be positively associated with IgAD (serum IgA Ͻ 0.07 g/L), the most common form of primary immunodeficiency in the Western world (45,46). The peak primary association in the current study is to the HLA-DQB1*0201 allele, with a significant secondary association with HLA-DRB1*1501 that is protective, and other putative risk alleles in the class II and class III regions.…”

Section: Discussionmentioning

confidence: 61%

Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases

Rioux

Goyette

Vyse

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

229

138

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The human MHC represents the strongest susceptibility locus for autoimmune diseases. However, the identification of the true predisposing gene(s) has been handicapped by the strong linkage disequilibrium across the region. Furthermore, most studies to date have been limited to the examination of a subset of the HLA and non-HLA genes with a marker density and sample size insufficient for mapping all independent association signals. We genotyped a panel of 1,472 SNPs to capture the common genomic variation across the 3.44 megabase (Mb) classic MHC region in 10,576 DNA samples derived from patients with systemic lupus erythematosus, Crohn's disease, ulcerative colitis, rheumatoid arthritis, myasthenia gravis, selective IgA deficiency, multiple sclerosis, and appropriate control samples. We identified the primary association signals for each disease and performed conditional regression to identify independent secondary signals. The data demonstrate that MHC associations with autoimmune diseases result from complex, multilocus effects that span the entire region.autoimmunity ͉ genes ͉ genetics

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Section: Discussionmentioning

confidence: 61%

Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases

Rioux

Goyette

Vyse

et al. 2009

Proc. Natl. Acad. Sci. U.S.A.

229

138

View full text Add to dashboard Cite

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“…The variation in the inheritance patterns, the lack of an identified genetic defect, the coincidence of SIGAD and CVID in one family [23,38,39] and the progression from SIGAD to CVID suggest common underlying genetic defects [1]. There is some evidence of mutations in the gene TNFRSF13B encoding TACI [14,40,41] and an increased frequency of some extended MHC haplotypes such as HLA B8, DR3 [23,42,43,44,45], HLA A28, B14 and HLA A1, B8 [46,47,48,49,50] in both SIGAD and CVID. In addition, they may share a common immunopathology, especially in the switching step [36].…”

Section: Discussionmentioning

confidence: 99%

Analysis of Switched Memory B Cells in Patients with IgA Deficiency

Aghamohammadi

Abolhassani

Biglari

et al. 2011

Int Arch Allergy Immunol

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Background: Selective IgA deficiency (SIGAD) is the most common primary antibody deficiency, characterized by significant decreased serum levels of IgA in the presence of normal IgG and IgM. Despite several investigations into the nature of the disease, the exact pathophysiology of SIGAD is still unknown. Methods: In this study, switched memory B cells (CD19+/CD27+/IgD– cell population) of 28 patients with SIGAD and 28 matched healthy controls were investigated using flow cytometry. Results: The percentage of switched memory B cells in all healthy controls was more than 0.4%. In SIGAD patients, who were classified as group I, the percentage of switched memory B cells was less than 0.4% (0.34 ± 0.06) in 7 patients (25%). The remaining 21 patients were designated as group II (1.74 ± 0.12%). The mean concentration of IgG in group I was significantly lower than in group II (1,014 ± 278 vs. 1,388 ± 406 mg/dl, p = 0.028). Comparison of clinical features between the 2 groups revealed that episodes of pneumonia during the course of disease were significantly higher in group I than in group II (p = 0.002). Autoimmune diseases in group I (57.1%) were also significantly higher (p = 0.01) than in group II (23.8%). The prevalence of bronchiectasis was 57% in group I, while only 1 patient (4.7%) in group II developed bronchiectasis (p = 0.006). Specific antibody deficiency in group I was documented in 5 patients and in group II in 4 patients (p = 0.01). Conclusions: The classification of SIGAD patients by assessment of switched memory B cells could help physicians with the clinical prognosis for these patients, whereas the patients with reduced switched memory B cells are prone to severe phenotypes.

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“…Although we did not study antibody responses against polysaccharide vaccines in all patients, it seems that some CVID patients can produce protective postvaccination titers [42], in contrast to the general notion that patients with CVID respond poorly to vaccination [38]. IgAD is occasionally associated with IgG subclass deficiency that may lead to bacterial infections and could signal the onset of CVID [43,44,45,46]. All but 2 of the reviewed cases had respiratory infectious manifestations, 47% had IgG2 subclass deficiency, indicating a gradual onset of CVID (table 2).…”

Section: Discussionmentioning

confidence: 99%

“…Our patients and others who have progressed from IgAD to CVID and have been HLA typed, share some alleles of these extended haplotypes (table 1). Several other extended haplotypes are increased in frequency among IgAD and CVID patients, including HLA A28, B14 and HLA A1, B8 [14, 44, 45, 54]. …”

Section: Discussionmentioning

confidence: 99%

Progression of Selective IgA Deficiency to Common Variable Immunodeficiency

Aghamohammadi

Mohammadi

Parvaneh

et al. 2008

Int Arch Allergy Immunol

138

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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. Common variable immunodeficiency (CVID) is a primary antibody deficiency disease that shares many clinical features with IgAD. A common genetic basis for IgAD and CVID has been suggested based on their occurrence in members of the same family and the similarity of the underlying B cell defects. Progression from IgAD to CVID has also been reported in several cases. Here we present 4 patients with IgAD and autoimmune features who subsequently developed CVID. All symptomatic IgAD patients, especially those with associated IgG subclass deficiency or autoimmune features, should be monitored for evolution to CVID. Early diagnosis of this conversion and institution of immunoglobulin therapy is effective in preventing severe bacterial infections and pulmonary insufficiency.

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HLA antigens in selective IgA deficiency: Distribution in healthy donors and patients with recurrent respiratory tract infections

Cited by 44 publications

References 15 publications

Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases

Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases

Analysis of Switched Memory B Cells in Patients with IgA Deficiency

Progression of Selective IgA Deficiency to Common Variable Immunodeficiency

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