1/14. Failure to detect circulating aspergillus markers in a patient with chronic granulomatous disease and invasive aspergillosis.We report a patient with chronic granulomatous disease who developed invasive pulmonary aspergillosis and a subphrenic abscess. During treatment, high levels of aspergillus antigen were detected in the abscess, but circulating antigen and aspergillus dna were undetectable in the serum.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/14. 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 = 0.5keywords = antigen (Clic here for more details about this article) |
3/14. First example of anti-Kx in a person with the McLeod phenotype and without chronic granulomatous disease.BACKGROUND: Kx is lacking in the RBCs of patients with the McLeod syndrome. This condition is sometimes associated with chronic granulomatous disease (CGD). If given allogeneic RBCs, CGD patients with the McLeod phenotype may produce anti-Kx and anti-Km, and only phenotypically matched McLeod blood would be compatible. McLeod phenotype persons without CGD have made anti-Km but not anti-Kx (2 examples), and thus both McLeod and K(O) blood would be compatible. CASE REPORT: RBCs from a transfused patient with the McLeod phenotype but not with CGD (non-CGD McLeod) were typed for the Kell blood group antigens, and the plasma was analyzed for the presence of antibody by agglutination. The molecular basis was determined by analyzing for XK protein on RBC membranes by Western immunoblotting, by sequencing the XK gene, and by RFLP. RESULTS: The RBCs did not react with anti-Kx anti-Km and showed weakening of Kell system antigens. The patient's plasma reacted moderately (2 ) with RBCs of common Kell type and strongly (4 ) with K(O) RBCs and RBCs of common Kell type treated with dithiothreitol, and did not react with McLeod RBCs. XK protein was absent from the RBC membranes. The XK gene had a point mutation in the donor splice site of intron 1 (G>C). CONCLUSION: This is the first report describing the molecular alteration in a non-CGD McLeod patient who has made anti-Kx. The immune response of people with the McLeod phenotype can vary, and K(O) blood may not always be compatible.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
4/14. Successful unrelated bone marrow transplantation for a patient with chronic granulomatous disease and associated resistant pneumonitis and aspergillus osteomyelitis.We describe the successful treatment of a 20-year-old patient with chronic granulomatous disease (CGD), by unrelated bone marrow transplantation (UBMT). The patient is relatively old compared to other CGD patients treated with BMT. He had had repeated serious infections from early childhood and was diagnosed as CGD, gp91-phox deficiency. Prolonged antibiotic-resistant pneumonitis worsened when the patient was 18 years old. In addition, he suffered aspergillus osteomyelitis and acute renal failure due to amphotericin b. He received 94 granulocyte transfusions from 94 adult donors and the infections gradually improved. In September 1998, at 20 years of age, he underwent UBMT from an HLA 6 antigen-matched male donor, with CY and TBI conditioning. He received MTX and CsA as prophylaxis against GVHD. No serious complications occurred and rapid engraftment was achieved. Acute GVHD (grade 2, at day 19) and chronic GVHD (limited, at day 192) occurred. However, both were easily controlled. The patient is alive and well with no late rejection 26 months after UBMT.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
5/14. Successful low toxicity hematopoietic stem cell transplantation for high-risk adult chronic granulomatous disease patients.BACKGROUND: Allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease (CGD) is associated with a significant risk of transplant-related mortality. adult age, overt infection, and residual inflammatory disease at transplant are major risk factors. methods: Here we report the favorable outcome after bone marrow transplantation in three high-risk adult CGD patients (ages 18, 35, and 39) with severe disease-related complications (overt pneumonia, liver abscess, steroid-dependent granulomatous colitis, diabetes, restrictive lung disease, renal insufficiency, epilepsia). Bone marrow donors were human leukocyte antigen-matched related or unrelated. The conditioning regimen consisted of 2 x 4 mg/kg oral busulphan (d -3, -2), fludarabine 6 x 30 mg/qm (d -7 to -2), rabbit anti-T-cell-globulin (Fresenius) 4 x 10 mg/kg (d -4 to -1). Graft versus host disease prophylaxis consisted of cyclosporine A and mycophenolate-mofetil. RESULTS: Mean neutrophil and platelet engraftment was observed at day 18.5 and 22.5, respectively. All infectious and inflammatory lesions resolved and restrictive lung disease improved. No signs of grade II-IV acute or chronic graft versus host disease were observed. With a follow-up of 12 to 27 months, all patients are alive and well with full donor chimerism, normalized superoxide production, and documented T- and B-cell function. CONCLUSION: This modified reduced intensity conditioning protocol is a promising treatment modality for high-risk adult CGD patients.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
6/14. gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus.In a patient suffering from X-linked chronic granulomatous disease (X-CGD)--a disorder of phagocytesuperoxide generation--and McLeod syndrome, characterized by the absence of the red cell Kell antigen, we identified a deletion of the entire X-CGD gene by means of dna hybridization with a cDNA probe. Our findings suggest that the X-CGD and McLeod loci are physically close in the p21 region of the x chromosome proximal to the Duchenne muscular dystrophy locus.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
7/14. Localization of the McLeod locus (XK) within Xp21 by deletion analysis.The McLeod phenotype is an X-linked, recessive disorder in which the red blood cells demonstrate acanthocytic morphology and weakened antigenicity in the Kell blood group system. The phenotype is associated with a reduction of in vivo red cell survival, but the permanent hemolytic state is usually compensated by erythropoietic hyperplasia. The McLeod phenotype is accompanied by either a subclinical myopathy and elevated creatine kinase (CK) or X-linked chronic granulomatous disease (CGD). Seven males with the McLeod red-blood-cell phenotype and associated myopathy but not CGD, one male with the McLeod phenotype associated with CGD, and two males known to possess large deletions of the Duchenne muscular dystrophy (DMD) locus were studied. dna isolated from each patient was screened for the presence or absence of various cloned sequences located in the Xp21 region of the human x chromosome. Two of the seven males who have only the McLeod phenotype and are cousins exhibit deletions for four Xp21 cloned fragments but are not deleted for any portion of either the CGD or the DMD loci. Comparison of the cloned segments absent from these two McLeod cousins with those absent from the two DMD boys and the CGD/McLeod patient leads to the submapping of various cloned dna segments within the Xp21 region. The results place the locus for the McLeod phenotype within a 500-kb interval distal from the CGD locus toward the DMD locus.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
8/14. Discoid lupus erythematosus and X-linked chronic granulomatous disease.X-linked chronic granulomatous disease (CGD), a defect of leukocyte bactericidal capacity, was seen in three generations of a large kindred. The association of discoid lupus erythematosus (DLE) with CGD was noted. Recurrent antigenic stimulation leading to autoantibody formation may explain the apparently increased frequency of DLE in female carriers of CGD. A screen for CGD, the nitroblue tetrazolium test, is suggested for females with DLE who have experienced suppurative infections or who have a family history of early childhood deaths or recurrent infections.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
9/14. Immune complex glomerulonephritis in chronic granulomatous disease. Case report of an eighteen-year-old girl.An 18-year-old girl is described who developed advanced renal sclerotic lesions, probably preceded by local focal glomerulonephritis, which coexisted with a staphylococcus aureus abscess. It is hypothesized that immune complex glomerulonephritis developed, provoked by long-term antigenic stimulation of staphylococcus aureus. The cause of these long-term bacterial infections was a defect of the phagocytic cells to kill bacteria effectively, a disease known as chronic granulomatous disease. Therapy with intracellularly active antimicrobial agents restored the renal function till no more haemodialysis was necessary.- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
10/14. Antigens of the Kell blood group system on neutrophils and monocytes: their relation to chronic granulomatous disease.KX, an antigen related to the Kell blood group system, is present in trace amounts on normal red cells and is strongly active on the neutrophils of all of 50 persons thus far tested. Normal circulating monocytes are now shown to also bear KX determinants. Absence of neutrophil KX has been associated with all of three previously tested patients with chronic granulomatous disease. In this study two male siblings with CGD also have been shown to have KX negative leukocytes, and white blood cells from their heterozygous mother were found to have a reduced competency to absorb anti-KX. Five CGD boys are known to lack KX; the probability of this occurring by chance is greater 10(-6).- - - - - - - - - - ranking = 0.5keywords = antigen (Clic here for more details about this article) |
| | Next -> |