Deficiency leukocyte

R9. Rosen, H., and Klebanoff, S. J, Chemiluminescence and superoxide production by myeloperoxidase-deficient leukocytes. J. Clin. Invest. 58, 50-60 (1976). 

McCarty MF (1998) Nitric oxide deficiency, leukocyte activation, and resultant ischemia are crucial to the pathogenesis of diabetic retinopathy/neuropathy-preventive potential of antioxidants, essential fatty acids, chromium, ginkgolides, and pentoxifylline. Med Hypotheses 50(5) 435 9... 

In the tissues of animals, most thiamine is found as its phosphorylated esteis (4—6) and is piedominandy bound to enzymes as the pyrophosphate (5), the active coen2yme form. As expected for a factor involved in carbohydrate metaboHsm, the highest concentrations ate generally found in organs with high activity, such as the heart, kidney, Hver, and brain. In humans this typically amounts to 1—8 p.g/g of wet tissue, with lesser amounts in the skeletal muscles (35). A typical healthy human body may contain about 30 mg of thiamine in all forms, about 40—50% of this being in the muscles owing to their bulk. Almost no excess is stored. Normal human blood contains about 90 ng/mL, mostly in the ted cells and leukocytes. A value below 40 ng/mL is considered indicative of a possible deficiency. Amounts and proportions in the tissues of other animal species vary widely (31,35). 

Mice that are homozygous for a disrupted Bx or B2 receptor gene are healthy, fertile and normotensive. In Bx-deficient mice, bacterial lipopolysaccharide-induced hypotension is diminished and the recruitment of polymorphonuclear leukocytes to the sites of tissue injury is impaired, and the animals show signs of hypoalgesia. Deletion of the B2 gene in mice leads to salt-sensitive hypertension and altered nociception. 

Leukocyte adhesion deficiency, type II (MIM 266265) Probably mutations affecting a Golgi-located GDP-fucose transporter, resulting in defective fucosylation. 

CD11a/CD18,CDllb/CD18, CDllc/CD18 j Adhesion molecules (members of the 1 integrin family) Deficient in leukocyte adhesion deficiency type 1 (MIM 116920)... 

Kuziel WA, Morgan SJ, Dawson TC, et al. Severe reduction in leukocyte adhesion and monocyte extravasation in mice deficient in CC chemokine receptor 2. Proc Natl Acad Sci U S A 1997 94(22) 12053-12058. 

Boisvert WA, Santiago R, Curtiss LK, Terkeltaub RA. A leukocyte homologue of the IL-8 receptor CXCR-2 mediates the accumulation of macrophages in atherosclerotic lesions of LDL receptor-deficient mice. J Clin Invest 1998 101(2) 353-363. 

Since erythrocytes, platelets, and leukocytes have received the greatest attention, the discussion that follows will be limited to these carriers. Fibroblasts [180] and hepatocytes [181] have been specifically used as viable sources to deliver missing enzymes in the management of enzyme-deficiency diseases, whereas islets are useful as a cellular transplant to produce insulin [182,183],... 

Garson, O. M., Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes. New Engl. J. Med. 280,528-534 (1969). 

The clinical picture includes cramps and recurrent myoglobinuria following intense exercise. Aside from episodes of myoglobinuria, none of the patients was weak. Forearm ischemic exercise caused a 1.5-2.0-fold increase in venous lactate concentration, an abnormally low but not absent response. Muscle biopsy showed normal or only moderately increased glycogen concentration. Because other accessible tissues, such as erythrocytes, leukocytes and cultured fibroblasts, express a different isoenzyme, the diagnosis of PGM-M subunit deficiency must be established by biochemical studies of muscle. Four different... 

Fructose-1,6-bisphosphatase deficiency, first describ ed by Baker and Winegrad in 1970, has now been reported in approximately 30 cases. It is more common in women and is inherited as an autosomal recessive disorder. Initial manifestations are not strikingly dissimilar from those of glucose-6-phosphatase deficiency. Neonatal hypoglycemia is a common presenting feature, associated with profound metabolic acidosis, irritability or coma, apneic spells, dyspnea, tachycardia, hypotonia and moderate hepatomegaly. Lactate, alanine, uric acid and ketone bodies are elevated in the blood and urine [11]. The enzyme is deficient in liver, kidney, jejunum and leukocytes. Muscle fructose-1,6-bisphosphatase activity is normal. 

Macrocytic anemias are characterized by increased mean corpuscular volume (110 to 140 fL). One of the earliest and most specific indications of macrocytic anemia is hypersegmented polymorphonuclear leukocytes on the peripheral blood smear. Vitamin B12 and folate concentrations can be measured to differentiate between the two deficiency anemias. A vitamin B12 value of less than 150 pg/mL, together with appropriate peripheral smear and clinical symptoms, is diagnostic of vitamin B12-deficiency anemia. A decreased RBC folate concentration (less than 150 ng/mL) appears to be a better indicator of folate-deficiency anemia than a decreased serum folate concentration (less than 3 ng/mL). 

LPS potentiates DON-induced corticosterone production by causing a prolonged elevation of systemic IL-ip. Furthermore, this corticosterone elevation is likely to drive subsequent induction of leukocyte apoptosis. The finding that IL-1R deficiency and IL-lra treatment did not completely abrogate LPS plus DON-induced corticosterone production or apoptosis suggests that other redundant pathways might be in operation that don t involve IL-ip. 

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