1/8. Respiratory syncytial virus infection in patients with phagocyte defects.patients with phagocyte defects frequently develop bacterial or fungal pneumonias, but they are not considered to be at increased risk for viral infections. We describe 3 patients with known phagocyte immunodeficiencies who developed lower respiratory tract infections (LRTI) caused by respiratory syncytial virus (RSV). All 3 patients had dense pneumonias as indicated by computed tomography scan of the lungs and RSV was recovered. We conclude that RSV can present as a dense pneumonia in patients with phagocyte defects. Along with common pathogens causing LRTI, RSV should be considered in the differential diagnosis. Viral cultures as well as rapid antigen detection assays for respiratory viruses should be included in the evaluation of LRTI in patients with phagocyte defects. respiratory syncytial virus, phagocyte, immunodeficiency, pneumonia.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
2/8. Leukocyte glutathione peroxidase deficiency in a male patient with chronic granulomatous disease.A male child with chronic granulomatous disease is described in whom glutathione peroxidase deficiency of leukocytes was identified. Stability and activity of G-6-PD and activity of nadph oxidase were normal. The leukocytes of the parents showed intermediate activities of glutathione peroxidase, suggesting the possibility of autosomal recessive inheritance.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
3/8. Unusual expression of IgG Fc receptors on peripheral granulocytes from patients with leukocyte adhesion deficiency (CD11/CD18 deficiency).Leukocyte adhesion deficiency (LAD) is a hereditary disease characterized by defective expression of leukocyte adhesion glycoproteins; lymphocyte function-associated Ag-1 (CD11a/CD18), CR3 (CD11b/CD18) and p150,95 (CD11c/CD18). granulocytes, monocytes, and lymphocytes of patients with LAD show profoundly defective in vivo and in vitro adherence-dependent immune functions. We investigated the expression of FcR for IgG on polymorphonuclear cells (PMN) and monocytes from patients with LAD, and their luminol- and lucigenin-enhanced chemiluminescence production in response to SRBC sensitized with murine (m) IgG2a and IgG2b. Unstimulated patient PMN showed an enhanced chemiluminescence in response to mIgG2a-SRBC and an increased phagocytosis of mIgG2a-SRBC. The up-regulated functions were inhibited by monomeric human IgG in a dose-dependent manner, which was attributed to an increase in expression of FcRI on patient PMN, as shown by flow cytometry using monoclonal antibody, 32.2, specific for human FcRI. In contrast, neither the expression of FcR on the monocytes of LAD patients nor their FcR-mediated functions were different from those of controls.- - - - - - - - - - ranking = 9keywords = deficiency (Clic here for more details about this article) |
4/8. Abnormal peroxidase-positive granules in "specific granule" deficiency."Specific granule" deficiency (SGD) has been previously associated with lactoferrin deficiency. The antimicrobial peptides termed defensins, comprising 30% of normal primary granule proteins, have also been shown to be markedly deficient in SGD. The present study was undertaken to correlate these findings with ultrastructural morphometric analysis and peroxidase cytochemistry. Peroxidase-positive, rim-stained, large, defensin-rich dense granules, previously described as a subpopulation of azurophil or primary granules in normal neutrophils, were markedly decreased in a patient with SGD. Morphometric studies of peroxidase-positive granules indicated an average peroxidase-positive granule area (all profiles) in the patient of 0.019 /- 0.017 micron 2 (mean /- SD, n = 941) compared to control values from normal neutrophils of two volunteers of 0.049 /- 0.033 micron 2 (n = 896) and 0.050 /- 0.039 micron 2 (n = 873) (P less than 0.001 between patient and control samples). Granule histograms showed a single peak of small peroxidase-positive granules, whereas control samples contained more prominent subpopulations of larger peroxidase-positive granules. The total number of peroxidase-positive granules per 100 micron 2 of cytoplasm in the patient was 255 /- 124 (mean /- SD, n = 15 cell profiles), which was similar to control values of 266 /- 63 and 212 /- 109. Thus, the defensin deficiency in SGD is associated with a decrease in size rather than number of peroxidase-positive granules; suggesting that defensins contribute to normal peroxidase-positive granule size and that SGD is a more global granule deficiency than originally thought.(ABSTRACT TRUNCATED AT 250 WORDS)- - - - - - - - - - ranking = 8keywords = deficiency (Clic here for more details about this article) |
5/8. Generalised glucosephosphate isomerase (GPI) deficiency causing haemolytic anaemia, neuromuscular symptoms and impairment of granulocytic function: a new syndrome due to a new stable GPI variant with diminished specific activity (GPI Homburg).A new glucosephosphate isomerase (GPI) variant is described which is characterised by very low specific activity in erythrocytes, granulocytes and muscle tissue, nearly normal stability, normal kinetic properties and a decreased electrophoretic mobility. The propositus suffers from a complex syndrome involving erythrocytes (congenital haemolytic anaemia), granulocytes (decreased production of superoxide anion and reduced bactericidal activity in vitro) and the neuromuscular system (myopathy, mental retardation). It is suggested that the clinical syndrome results from generalised GPI deficiency due to a decreased specific activity of the variant enzyme, which cannot be compensated by an increase of de-novo synthesis of GPI protein even in cells exhibiting active protein synthesis such as granulocytes and muscle cells.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
6/8. Neutrophil pyruvate kinase deficiency with recurrent staphylococcal infections: first reported case.A woman with an intracellular killing defect in the neutrophils had neutrophil pyruvate kinase deficiency. She had had recurrent staphylococcal infections throughout her life. The enzyme present was unstable and its kinetics were abnormal.- - - - - - - - - - ranking = 5keywords = deficiency (Clic here for more details about this article) |
7/8. A polymorph bactericidal defect and a lupus-like syndrome.We describe a child with primary defect of polymorph bacterial killing associated with systemic lungs erythematosus. We suggest that her autoimmune disease results from chronic bacterial antigen stimulation and propose a hypothetical model linking immunodeficiency with autoimmunity.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
8/8. pseudomonas cepacia pneumonia in a child with chronic granulomatous disease and selective iga deficiency.A 6 1/2 year-old boy with chronic granulomatous disease (CGD) and selective iga deficiency developed a chronic progressive pneumonia which failed to respond to several conventional combinations of antimicrobial therapy. On lung biopsy, pseudomonas cepacia was obtained in pure culture, sensitive to chloramphenicol, tetracycline, kanamycin and nalidixic acid. With specific therapy, he slowly recovered. P. cepacia has not been previously described as a cause of persistent pneumonia in immunodeficient children. The occurrence of CGD and selective iga deficiency together is a very rare combination of immunodeficiencies.- - - - - - - - - - ranking = 6keywords = deficiency (Clic here for more details about this article) |