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Results for “inborn errors of immunity”

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At least 91 records · Page 5Linked to original sources
PubMed1996

In utero transplantation of fetal liver stem cells into human fetuses.

Based on our experience in the field of fetal liver transplantation (FLT) that we have developed since 1976, we initiated, in 1988, in utero FLT into human fetuses, taking advantage of the immunologic tolerance in young fetuses. The transplants have involved fetuses suffering from various diseases at 12-28 weeks postfertilization, with 2 of the 6 cases eventually resulting in abortion. With the 4 other fetuses, a favorable outcome was observed. Three children are more than 4 years old, and they are alive and well, with evidence of engraftment, reconstitution of immunity, and partial correction of beta-thalassemia. In the fourth case, the fetus is alive and well and birth is expected soon. In utero transplantation of stem cells is a therapy with remarkable advantages: (a) tolerance induction due to immune immaturity of the host, (b) lack of graft-versus-host disease (GVHD) due to immaturity of the donor, (c) ideal isolation of the fetus in the maternal uterus, and (d) optimal environment for donor fetal cell development in the vicinity of host fetal cells and growth factors.

Abortion, Spontaneous↗
PubMed2006

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.

There is a growing awareness that inborn errors of metabolism can be a cause of non-immune hydrops fetalis. The association between congenital disorders of glycosylation (CDG) and hydrops fetalis has been based on one case report concerning two sibs with hydrops fetalis and CDG-Ik. Since then two patients with hydrops-like features and CDG-Ia have been reported. Two more unrelated patients with CDG-Ia who presented with hydrops fetalis are reported here, providing definite evidence that non-immune hydrops fetalis can be caused by CDG-Ia. The presence of congenital thrombocytopenia and high ferritin levels in both patients was remarkable. These might be common features in this severe form of CDG. Both patients had one severe mutation in the phosphomannomutase 2 gene, probably fully inactivating the enzyme, and one milder mutation with residual activity, as had the patients reported in literature. The presence of one severe mutation might be required for the development of hydrops fetalis. CDG-Ia should be considered in the differential diagnosis of hydrops fetalis and analysis of PMM activity in chorionic villi or amniocytes should also be considered.

Abnormalities, Multiple↗
PubMed2000

[The effect of an antiatherosclerotic diet including omega-3 polyunsaturated fatty acids of marine and plant origins on the indices of cellular and humoral immunity in patients with ischemic heart disease and a disordered carbohydrate tolerance].

The dynamic of natural antibodies against catecholamines and alpha-2-macroglobulin, thrombin, antithrombin III and parameters of cellular immunity in 92 patients with ischemic heart disease and ischemic heart disease complicated by impaired glucose tolerance was studied of influence of antiatherosclerotic diet with fish and vegetable PUFA omega-3 from "Eicolen". Besides favorable influence to a clinical picture of the disease universal normalizing influence of antiatherosclerotic diet with addition Eicolen on parameters of humoral a cellular immunity.

Aged↗
PubMed1996

Immune mechanisms leading to drug-induced blood dyscrasias.

Drug-induced blood dyscrasias may be due to toxicity of the drug, inborn errors of metabolism or immunological reactions. In the latter case, drug-induced antibodies are directed to specific target cells, such as platelets (thrombocytopenia) or granulocytes (agranulocytosis). Some of these immune mechanisms are based on the physical interaction between drug, antibody and target cells. A particular drug may bind to the surface of the blood cell which, as a carrier of the drug, will be destroyed as part of the immune reaction to the drug (hapten mechanism). Other drugs will form immune complexes with drug-specific antibodies. These immune complexes will bind to certain blood cells and destroy them as innocent bystanders (immune complex mechanism). In vitro assays are described which enable the offending drug to be detected by mimicking these immune mechanisms using patient serum, platelets or granulocytes, and the suspected drug. The diagnostic value of these in vitro assays is discussed.

Antibodies↗
PubMed2000

Abnormal immune function in vivo in a murine model of lysosomal storage disease.

Lysosomal storage diseases are a class of inborn errors of metabolism that lead to widespread disease in multiple tissues. The murine model of mucopolysaccharidosis type VII (MPS VII) closely parallels the human syndrome and has been extensively used to investigate the natural history and therapeutic strategies for lysosomal storage diseases in general. Here we demonstrate a previously undescribed immune defect in the MPS VII mouse. Although the normal populations of cells are present in lymph nodes of these mice, MPS VII mice show a blunted T cell proliferative response and decreased antibody production after immunization with antigens. One mechanism of this defect is ineffective processing of protein antigens, as responses to peptide antigens are normal. This phenotype is presumably caused by the lysosomal disorder, as the defect can be corrected in vivo by direct enzyme replacement therapy. These findings have implications for the use of this animal model, and may have clinical significance for other, more-common lysosomal storage diseases.

Animals↗
PubMed1996

Immunodeficiency as a component of recognizable syndromes.

Immunodeficiency occurs in numerous genetic syndromes. While it is the dominant manifestation in primary immunodeficiencies, immune deficits may also be seen in a variety of other recognizable syndromes. Immunodeficiency has been reported in 64 such conditions, adding to the 45 recognized primary immunodeficiencies. These uncommon syndromes with immune defects can present with: (a) growth deficiency (11 syndromes with disproportionate or proportionate short stature), (b) specific organ system dysfunction (18 with gastrointestinal, dermatologic, or neurologic abnormalities), (c) inborn errors of metabolism (13), (d) miscellaneous anomalies (10), or (e) chromosome anomalies (12). In most of the disorders, only some of the affected patients have immune defects. However, in 27 syndromes, immunodeficiency is a constant finding. We briefly review the clinical manifestations of each syndrome and delineate the specific associated immune defects. In most syndromes, the connection between the immune and other defects is unknown. Recognition of these conditions involving both the immune and other organ systems may facilitate accurate diagnosis and management as well as yield information regarding genes critical for the development of the involved systems.

Chromosome Aberrations↗
PubMed1980

Immunological studies of propionyl CoA carboxylase in livers and fibroblasts of patients with propionic acidemia.

Antiserum prepared against homogeneous pig heart propionyl CoA carboxylase cross-reacted with human propionyl CoA carboxylase, and was used to demonstrate the presence of immunological cross-reacting material in extracts from the livers of three patients and from fibroblasts of four patients with propionic acidemia representing three major propionyl CoA carboxylase-deficient genetic complementation groups, pcc A, pcc C and bio. Since the quantity of cross-reacting material in the propionyl CoA carboxylase-deficient livers and enzyme-deficient fibroblast cell lines was comparable to that in normal tissues while showing less than five percent of the normal enzyme activity, these patients must synthesize normal or near-normal quantities of an enzymatically inactive propionyl CoA carboxylase protein. In addition, no appreciable change in the amount of cross-reacting material was found in the biotin-responsive bio fibroblasts after incubation with supplemental biotin despite a sixteen-fold increase in enzyme activity suggesting that the defect in the bio mutant involves the activation rather than the synthesis of a pre-existing normal apoenzyme.

Animals↗