Mitochondrial Basis for Immune Deficiency

Mitochondrial Basis for Immune Deficiency

We generated purine nucleoside phosphorylase (PNP)-deficient mice to gain insight into the mechanism of immune deficiency disease associated with PNP deficiency in humans. Similar to the human disease, PNP deficiency in mice causes an immunodeficiency that affects T lymphocytes more severely than B lymphocytes. PNP knockout mice exhibit impaired thymocyte differentiation, reduced mitogenic and ...

[Mitochondrial trifunctional protein deficiency].

We examined the enzyme protein and biosynthesis of human trifunctional protein harboring enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and 3-ketoacyl-CoA thiolase activity in cultured skin fibroblasts from two patients with longchain 3-hydroxyacyl-CoA dehydrogenase deficiency. The following results were obtained. (a) In cells from patient 1, immunoblot analysis and pulse-chase experimen...

Immune deficiency diseases.

Paediatricians have long been deeply concerned with problems of infection. The sharp decrease in childhood mortality in recent decades in highly developed countries is mainly due to progress in preventing and treating infection: for example, in Switzerland in 1973 there were about 88 000 births and only 16 deaths due to infection in children aged between 2 and 4 years in contrast to 76 killed b...

Host Immune Deficiency in Immune Complex Nephritis1

Evidence is reviewed that indicates that an immune deficiency state may underlie patients with immune complex nephritis. Studies in several laboratories provide data that show defective immune function in patients with nephritis at the following loci: defective immunoglobulin production, impaired monocyte Fc and C3b receptor function, diminished complement biosynthesis, and decreased mesangial ...

Acquired immune deficiency syndrome.