Search results

1

Absence of the severe combined immunodeficiency disease gene among Arabian horses in Poland

100%

Terry R. R., Cholewinski G., Cothran E. G.

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1999

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vol. 40

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issue 1

39-41

EN

Severe combined immunodeficiency disease (SCID) is an autosomal recessive disease occurring in Arabian horses. A recent discovery of a five base pair deletion in the gene encoding DNA-PK catalytic subunit has led to a PCR based test to screen for carriers of this disease. It has been suggested that the origin of this mutation arose from a stallion that originated in Poland. For this reason the occurrence of the SCID allele was tested on a representative sample of Polish horses. None of the 271 horses tested were carriers for this mutated allele.

2

Cellular immune activation, neopterin production, tryptophan degradation and the development of immunodeficiency

80%

Widner B., Wirleitner B., Baier-Bitterlich G., Weiss G., Fuchs W.

Archivum Immunologiae et Therapiae Experimentalis

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2000

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vol. 48

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issue 4

251-258

EN

Cellular (Th1-type) immune response is centrally involved in the pathogenesis of various diseases. Within the immunological cascades of Th1-type immunity, interferon (IFN-), among other cytokines, is critically involved. It triggers a series of immune-relevant reactions mostly directed towards forward regulation of the antigen specific immune response. However, in chronic states of immune activation, systemically increased IFN-gamma is no longer antigen specific and is associated with the development of immunodeficiency. IFN-gamma also stimulates the production of neopterin, a low-mass compound, in human monocytes/macrophages. Accordingly, neopterin concentrations in humans reflect the degree of Th1-type immune activation. Since IFN-gamma also stimulates the release of reactive oxygen species (ROS) from immunocompetents cells, the amount of neopterin produced also serves as an indirect estimate of oxidative stress. In parallel, IFN-gamma activates the degradation of tryptophan, which appears to limit the growth of intracellular pathogens and the proliferation of cells, including T lymphocytes. Thus, during persisting states of immune activation, the production of IFN-gamma is not only associated with forward regulation of the immune response, but also with immunosuppressive mechanisms. The increased formation of neopterin and degradation of tryptophan may result in a drecreased T cell responsiveness and development of immunodeficiency.

3

B cell development and primary immunodeficiencies with hypogammaglobulinemia

80%

Hokibara S., Agematsu K., Komiyama A.

Archivum Immunologiae et Therapiae Experimentalis

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2000

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vol. 48

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issue 4

267-271

EN

The differentiation of B cells along the pathway of B cell development has been well characterized. In the bone marrow, the differentiation from pro-B cells to immature B cells can be defined by several surface antigens, such as a surrogate light chain. Immature B cells become mature B cells and then circulate in the peripheral blood as naive B cells. In the peripheral lymphoid tissues, naive B cells differentiate into memory B cells, which express the CD27 molecule, or plasma cells. Primary immunodeficiencies with hypogammaglobulinemia are caused by defects of the specific molecules which are needed for the B cell differentiation. Recent studies of the genes responsible for such immunodeficiencies have clarified B cell development as well as their pathogenesis. We discuss here the molecules affecting the B cell development and primary immunodeficiencies with hypogammaglobulinemia.

4

T cell depleted haploidentical bone marrow transplantation for the treatment of children with severe combined immunodeficiency

80%

Smogorzewska E. M., Brooks J., Annett G., Kapoor N., Crooks G. M., Kohn D. B., Parkman R., Weinberg K. I., D. B. K.

Archivum Immunologiae et Therapiae Experimentalis

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2000

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vol. 48

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issue 2

111-118

EN

Severe combined immunodeficiency (SCID) is fatal in early childhood if unrecognized and if not treated. The aim was to determine the efficacy of T cell depleted bone marrow transplantation (TCD BMT) in the treatment of children with SCID. Eleven children diagnosed with SCID received histocompatible related donor bone marrow transplantation ? HRD BMT (group I). Thirty seven children diagnosed with SCID who did not have histocompatible donors were treated with TCD haploidentical parental bone marrow transplantation (BMT) (group II). TCD was performed by in vitro soybean lectin agglutination followed by E-rosette depletion. Patients were longitudinally assessed for the presence and function of T and B lymphocytes. In group I all children survived. The mean age of children in this group at the time of HRD BMT was 15. 4 months. All surviving patients normalized their specific T cell function. Two out of 11 require treatment with intravenous immunoglobulin i. v. Ig. In group II 17 out of 37 (46%) children survived. At the time of TCD BMT the mean age of survivors was 7. 5 months, vs. 11. 4 months in patients who died. Death was caused most commonly by opportunistic infections, Epstein-Barr virus induced lymphoproliferative disease (EBV-LPD), and graft versus host disease (GvHD). Seventeen out of 17 surviving patients recovered normal numbers of CD3+ cells and antigen specific T cell function. Five out of 17 never recovered their B cell function and require i. v. Ig injections. Early diagnosis, prevention or treatment of opportunistic infections, and enhancement of immune recovery will be necessary to improve survival in patients with SCID treated with TCD BMT.

5

Immunological system status and the appearance of respiratory system disturbances in thymectomized patients

80%

Krawczyk P., Adamczyk-Korbel M., Kieszko R., Korobowicz E., Milanowski J.

Archivum Immunologiae et Therapiae Experimentalis

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2007

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vol. 55

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issue 1

49-56

EN

Introduction: Adult-onset thymoma may be responsible for several diseases, such as pure red cell aplasia, myasthenia gravis, and immunodeficiency (Good's syndrome). Thymectomy does not always improve the patient's condition, and may even produce additional symptoms. Its pathogenesis is still not entirely understood, but autoimmunological processes and bone marrow defect are the most frequently suggested. Materials and Methods: Eleven patients (mean age: 56.2?15.5 years) were analyzed 6 months to 10 years after thymectomy due to thymoma as were 25 healthy persons serving as controls. Enzyme-linked immunosorbent assay (ELISA) and flow cytometry techniques were used to evaluate the immunological status of the subjects. Results: Good's syndrome was diagnosed in one patient, 4 subjects suffered from myasthenia gravis, and recurrent infections of upper and lower respiratory tract appeared in 9 patients. The immunological analyses (ELISA and flow cytometry) revealed a significantly lower IgG level (p<0.05), percentage of peripheral blood B lymphocytes (p<0.0005), and CD4:CD8 ratio (p<0.05) in thymectomized patients compared with the healthy controls. The percentages of CD4+ and CD8+ T lymphocytes expressing CD28 antigen were significantly lower in thymectomized patients than in healthy subjects (p<0.005 and p<0.01, respectively). The percentage of na?ve T helper lymphocytes was significantly lower in the patients than in the control group (p<0.05).Conclusions: Immunodeficiency and recurrent infections may be the first symptoms of immunological disturbances after thymectomy in adults. It is suggested that regular medical monitoring of these patients is important in preventing further complications, which may result in irreversible lung tissue destruction.

6

Familial occurrence of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome

70%

Siedlar M., Rudzki Z., Strach M., Trzyna E., Pituch-Noworolska A., Blaut-Szlosarczyk A., Bukowska-Strakova K., Lenart M., Grodzicki T., Zembala M.

Archivum Immunologiae et Therapiae Experimentalis

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2008

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vol. 56

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issue 6

419-425

EN

Introduction: Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency disorder with an autosomal-dominant pattern of inheritance and low fatality rate but significant lifelong morbidity. Materials and Methods: A 27-year-old mother of two children has been suffering from severe neutropenia and recurrent infections with the diagnosis of sporadic WHIM established by sequencing the CXCR4 gene and the finding of a heterozygous 1000 CT nonsense mutation in the second CXCR4 exon. The first child was an apparently healthy boy delivered at full term. Umbilical cord blood cells were obtained for genetic analysis. Peripheral blood cells were also analyzed at 8 months of life. Both analyses revealed the same mutation as that of his mother. The child was in a good condition, manifesting neutropenia without infections until 11 months of life. He subsequently developed pneumonia requiring a more aggressive treatment. After that, the regular substitution of immunoglobulins (IVIGs) and G-CSF has been preventing serious infections. Six months ago the second boy was delivered who also demonstrated neutropenia without severe infections. Genetic studies using cord blood and also peripheral blood cells in the fourth month showed an identical mutation of the CXCR4 gene as in his mother. Moreover, the mother and her first son demonstrated monocytopenia. Results: The results indicate that genetic defects connected with WHIM syndrome may influence not only the granulocyte, but also the monocytic lineage. Moreover, a perinatal diagnosis of WHIM syndrome made by sequencing the CXCR4 gene should be performed in cases where either parent is known to be affected with this disease. Conclusions: This would facilitate an earlier detection of the deficiency in children, thereby allowing a more comprehensive follow-up and administration of appropriate therapy.

Refine search results

Absence of the severe combined immunodeficiency disease gene among Arabian horses in Poland

Cellular immune activation, neopterin production, tryptophan degradation and the development of immunodeficiency

B cell development and primary immunodeficiencies with hypogammaglobulinemia

T cell depleted haploidentical bone marrow transplantation for the treatment of children with severe combined immunodeficiency

Immunological system status and the appearance of respiratory system disturbances in thymectomized patients

Familial occurrence of warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome