Z Pikulová

Masaryk University, Brno, South Moravian Region, Czech Republic

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Publications (6)8.31 Total impact

  • Article: Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations.
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    ABSTRACT: Mutations in the TNFRSF13B gene, encoding TACI, have been found in common variable immunodeficiency (CVID) and selective IgA deficient (IgAD) patients, but only the association with CVID seems to be significant. In this study, Czech CVID, IgAD and primary hypo/dysgammaglobulinemic (HG/DG) patients were screened for all TNFRSF13B sequence variants. The TNFRSF13B gene was mutated in 4/70 CVID patients (5.7%), 9/161 IgAD patients (5.6%), 1/17 HG/DG patient (5.9%) and none of 195 controls. Eight different mutations were detected, including the most frequent p.C104R and p.A181E mutations as well as 1 novel missense mutation, p.R189K. A significant association of TNFRSF13B gene mutations was observed in both CVID (p=0.01) and IgAD (p=0.002) Czech patients. However, when combined with all published data, only the association with CVID remained significant compared with the controls (9.9% vs. 3.2%, p<10(-6)), while statistical significance disappeared for IgAD (5.7% vs. 3.2%, p=0.145). The silent mutation p.P97P was shown to be associated significantly with CVID compared with the controls in both Czech patients (allele frequency 4.3% vs. 0.2%, p=0.01) and in connection with the published data (5.1% vs. 1.8%, p=0.003). The relevance of some TNFRSF13B gene variants remains unclear and needs to be elucidated in future studies.
    Human immunology 08/2012; 73(11):1147-54. · 2.55 Impact Factor
  • Article: T and B lymphocyte subpopulations and activation/differentiation markers in patients with selective IgA deficiency.
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    ABSTRACT: Selective deficiency of immunoglobulin A (IgAD) and common variable immunodeficiency (CVID) are genetically closely related diseases, both of unknown pathogenesis. A plethora of abnormalities in lymphocyte subpopulations and expression of activation markers were repeatedly documented in CVID patients, while almost no data are available about lymphocyte subpopulations in IgAD patients. We determined basic lymphocyte subpopulations and those subpopulations that were reported to be abnormal in CVID patients (CD25, human leucocyte antigen (HLA)-DR CD45RA, CD45RO, CD27, CD28 and CD29 on both CD4(+) and CD8(+) cells, CD57 and CD38 on CD8(+) cells, CD21, CD27, IgM, IgD on B lymphocytes) in 85 patients with IgAD, 47 patients with CVID and in 65 healthy controls. Statistical analysis was performed by the Mann-Whitney U-test; significant P-values were determined by means of Bonferoni's correction. Our results showed an increase in the relative number of CD8(+) cells and a decrease in the absolute number of CD4(+) cells compared to healthy people, but similar abnormalities in CVID patients were much more expressed. IgAD patients had significantly decreased expression of HLA-DR and increased expression of CD25 on CD4(+) lymphocytes, also CD29 expression was decreased on CD8(+) cells, while other activation/differentiation markers on T cells (including the expression of CD45RA and CD45RO antigens) were not changed. There were no statistically significant abnormalities in B lymphocyte developmental stages in IgAD patients compared to healthy controls. Our observation showed that the majority of T and B lymphocyte subpopulation abnormalities described previously in CVID are not present in IgAD patients.
    Clinical & Experimental Immunology 03/2007; 147(2):249-54. · 3.36 Impact Factor
  • Article: [Autoantibodies in relatives of IgA-deficient patients].
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    ABSTRACT: Selective IgA deficiency is frequently associated with autoimmune phenomena. We addressed the question, whether autoantibodies are more frequent in relatives of IgA deficient persons. Fifteen first-degree relatives of patients with a familial form of IgA deficiency and 129 first-degree relatives of patients with a sporadic form of IgA deficiency were evaluated. Following autoantibodies were detected: antinuclear, anti-thyreoglobulin, anti-thyroid microsomal, anti-gastric parietal cell, anti-reticulin, anti-smooth muscle, anti-mitochondrial, anti-neutrophil cytoplasmatic, anti-cardiolipin, rheumatoid factor and antibodies against gliadin. We did not find increase in any of the autoantibodies evaluated in any groups of patients. Our results do not support a significant genetic influence in autoantibodies formation in selective IgA deficiency.
    Vnitr̆ní lékar̆ství 02/2001; 47(1):17-9.
  • Article: IgA deficiency in Czech healthy individuals and selected patient groups.
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    ABSTRACT: Selective IgA deficiency (IgAD) is the most common immunoglobulin deficiency with a variety of clinical manifestations. The frequency of IgAD differs depending on the ethnic origin and clinical symptoms of investigated persons. The prevalence of IgAD (serum IgA level <0.05 g/l) was determined in 5,310 Czech blood donors, 10,326 patients who had undergone immunological investigation, and 246 first-degree relatives of IgAD and common variable immunodeficiency (CVID) patients. IgAD was detected in 13 (1/408; 0.24%) of the blood donors. The prevalence of IgAD was increased both in children (48/3,113; 1.5%) and adults (33/3,824; 0.9%) referred for frequent respiratory tract infections (in both cases p<0.001) compared to the healthy population. The frequency of IgAD was 12/189 (6%) in first-degree relatives of IgAD patients and 9/57 (16%) in relatives of CVID patients, with the highest frequency observed in children of CVID patients. The prevalence of IgAD in the Czech healthy population is comparable to that in other Caucasians. The frequency is increased in children with recurrent respiratory tract infections and especially in relatives of patients with immunoglobulin deficiencies.
    International Archives of Allergy and Immunology 10/2000; 123(2):177-80. · 2.40 Impact Factor
  • Article: [IgG subclasses and autoantibodies in adult patients with selective IgA deficiency].
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    ABSTRACT: Selective IgA deficiency is the most common primary immunodeficiency disease, but the etiopathogenesis is unknown. In a portion of patients disturbed IgA production is accompanied by various immunological abnormalities. Serological laboratory results of 30 female and 22 male adult patients with selective IgA deficiency were compared with sex- and age-matched healthy controls. Hypergammaglobulinemia IgG was observed in 31 patients and only in 2 control persons. Serum IgG1 was increased in 12 and/or IgG3 in 18 patients, the increase in IgG2 was less common (6 persons). The number of persons with increased IgE did not differ from the control group. The occurrence of autoantibodies (antinuclear antibodies, rheumatoid factor, antithyroglobulin and anti-thyroid microsomal antibodies, anti-gastric parietal cells, reticulin, smooth muscle, anticardiolipin, and anti-gliadin antibodies) did not differ significantly from the control group. IgG hypergammaglobulinemia, which, according to our results, is the most frequent accompanying serological abnormality in IgA deficiency, may be caused by compensatory increased production, but may also reflect more profound immunological dysregulation in the disease.
    Vnitr̆ní lékar̆ství 04/2000; 46(3):170-3.
  • Article: [Serum neopterin in IgA deficiency and common variable immunodeficiency].
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    ABSTRACT: Serum neopterin levels were determined in 31 children and 18 adults with the selective IgA deficiency and in 17 adult patients with a common variable immunodeficiency. The results were compared with serum neopterin levels of 41 children and 26 adult controls. All sera were obtained in an infection-free period. We observed significantly increased serum neopterin levels in common variable immunodeficiency patients; this increase was observed namely in patients with a severe course of the disease. No increase in serum neopterin levels was observed neither in IgA deficient patients prone to respiratory tract infections nor in IgA deficient persons examined for other reason (allergy, rheumatoid disease, etc.). The results stand against macrophage activation in the selective IgA deficiency.
    Vnitr̆ní lékar̆ství 11/1999; 45(10):598-601.

Institutions

  • 2000–2007
    • Masaryk University
      • Ústav klinické imunologie a alergologie
      Brno, South Moravian Region, Czech Republic
  • 2001
    • St. Ann's University Hospital Brno
      Brno, South Moravian Region, Czech Republic