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At least 451 records · Page 25Linked to original sources
PubMed1977

Leukaemogenesis in Down's syndrome.

Due to the fixed karyotype and documented malignancy risk in patients with Down's syndrome, recently described aetiological factors can be assigned to their proper places in a conceptual framework for leukaemogenesis in these individuals. This is a more profitable approach than those in which various types of karyotypic patterns are matched to different malignancies. It seems that viruses may play a special role, but they need interaction with other factors, most of which are present in Down's syndrome. A unifying concept which may be helpful in establishing research priorities is presented.

Child↗
PubMed1978

Immunodeficiency in Down's syndrome: T-lymphocyte subset imbalance in trisomic children.

In fourteen children with Down's syndrome the percentage of circulating T-cells forming rosettes with sheep erythrocytes, either in the presence or in the absence of foetal calf serum, was significantly lower than in appropriately matched controls. In contrast the percentage of T-cells forming rosettes with human erythrocytes was significantly higher in children with Down's syndrome than in controls. These data support the hypothesis that a defective T-cell maturation is an early integral feature of Down's syndrome.

Child, Preschool↗
PubMed1990

Molecular studies of DiGeorge syndrome.

DiGeorge Syndrome (DGS) is often associated with loss of a portion of the proximal long arm of chromosome 22. Using a probe for the D22S9 locus, we have examined DNA from eight DGS cell lines and from one balanced-translocation carrier parent of a DGS proband. The D22S9 locus is deleted in four DGS patients, with deletion of 22pter----q11 because of unbalanced translocation. The locus is not deleted from three DGS probands with normal chromosomes or from two DGS probands with interstitial deletions of 22q11. The interstitial deletion DGS probands are also heterozygous for D22S43, another proximal 22q11 locus. This suggests that D22S9 and D22S43 are in a flanking but not critical region for DGS. One of the interstitial deletion DGS probands is monosomic for BCRL2 but has two copies of the flanking BCRL4 and BCR loci. Thus, the region critical to DGS (DGCR) may be in proximity to the BCRL2 locus.

Alleles↗
PubMed1985

Pathophysiologic aspects of lymphokines.

Lymphokines have been known to be part of the immune system during almost the last three decades; within the last decade the information on their production, biochemical and biological characteristics has grown immensely. Their study has contributed significantly in the understanding of the physiological aspects of the immune responses. Recently, information has started being accumulated on their role in the pathogenesis of various diseases. Abnormalities of their production, and their ability to modify certain effector cell functions have been described. In this review, we will attempt to view the extensive information on lymphokines from a pathophysiologic perspective.

Acquired Immunodeficiency Syndrome↗
PubMed1987

Isoprinosine (inosine pranobex BAN, INPX) in the treatment of AIDS and other acquired immunodeficiencies of clinical importance.

The immunopharmacologic effects of Isoprinosine (INPX) have been associated with clinical benefit to the patient in a number of conditions characterized by immunodeficiency of diverse etiology. Immunodepressed homosexuals at risk of developing acquired immunodeficiency syndrome (AIDS) treated with placebo or INPX experienced an increase in the function and number of immunocompetent cells associated with clinical improvement. A multicenter trial designed to confirm these results has demonstrated that INPX produced an increase in natural killer (NK)-cell activity, total T cells, and T-helper cells, with certain effects persisting for months after completion of the 28-day treatment period. INPX-treated patients also experienced clinical improvement and decreased incidence of progression to AIDS. The administration of INPX for longer periods to patients with frank AIDS under a compassionate-use protocol has also proved useful. Clinical benefit associated with INPX treatment has been demonstrated in other patients with a depressed immune response, such as aged patients, cancer patients, severely burned patients, ill patients, and surgery patients. This program of clinical trials supports the therapeutic use of INPX in the treatment of AIDS and other acquired immunodeficiencies of clinical importance.

AIDS-Related Complex↗
PubMed1989

HLA class II antigens: structure, function, and expression in immunodeficiencies, autoimmune diseases, and allograft rejection.

The major histocompatibility complex (MHC) genes, coding for the histocompatibility leukocyte antigens (HLAs) are located on the short arm of chromosome 6. The HLA gene products are involved in many immune responses. Class I and class II molecules are composed of two subunits. Class I antigens are expressed on all cell types except red blood cells; class II molecules have a more limited distribution and are found only on certain cell types. A review of our current knowledge of the genes coding for these molecules, their biochemical analysis, and the current investigation into the three-dimensional structure of the glycoproteins will allow us to understand better how this complex system, which has been preserved in animal species throughout the evolutionary process, operates. The biologic significance of HLA class I and class II molecules in the development of an efficient immune system that permits our survival in the sea of microorganisms in which we are immersed is illustrated by the severe and lethal infections that occur when these antigens are absent. Important and interesting variations in class II antigen expression are also observed in certain autoimmune diseases. Furthermore, the role of these antigens in the allogeneic reaction of graft rejection has now been clearly identified. It has become increasingly apparent how important it is to understand the antigenic variation between organs, or even between cells within an organ, and to be able to identify the circumstances that are associated with modulation of antigen expression.

Autoimmune Diseases↗
PubMed1989

[Cardiac surgery of tetralogy of Fallot associated with DiGeorge syndrome: a case report].

A case of 7-year-old boy with tetralogy of Fallot associated with DiGeorge syndrome was reported. He had been diagnosed as cardio-facial syndrome with hypoparathyroidism because of hypocalcemia, convulsion, cardiac defect and the characteristic face. But immunologic study showed hypofunction of cellular immunity and cardiac catheterization and angiogram revealed the Tetralogy of Fallot. So we diagnosed as DiGeorge syndrome and performed operation. The thymus was not found and we close the ventricular defect with patch and reconstructed right ventricular outflow tract with transannular patch. We often measured serum ionized calcium level and corrected with calcium gluconate intravenously. Peritoneal dialysis was done due to oliguria and much inotropic support was necessary.

Child↗