Filter by keywords:



Filtering documents. Please wait...

11/48. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.

    Most patients with chronic granulomatous disease (CGD) have mutations in the X-linked CYBB gene that encodes gp91phox, a component of the phagocyte nadph oxidase. The resulting X-linked form of CGD is usually manifested in boys. Rarely, X-CGD is encountered in female carriers with extreme expression of the mutated gene. Here, we report on a woman with a novel mutation in CYBB (CCG[90-92]-->GGT), predicting Tyr30Arg31-->stop, Val in gp91phox, who presented with clinical symptoms at the age of 66. The mutation was present in heterozygous form in genomic dna from her leukocytes but was fully expressed in mRNA from these cells, indicating that in her leukocytes the x chromosome carrying the nonmutated CYBB allele had been inactivated. Indeed, only 0.4% to 2% of her neutrophils showed nadph oxidase activity. This extreme skewing of her X-chromosome inactivation was not found in her cheek mucosal cells and is thus not due to a general defect in gene methylation on one x chromosome. Moreover, the CYBB mutation was not present in the dna from her cheek cells and was barely detectable in the dna from her memory T lymphocytes. Thus, this patient shows a somatic mosaic for the CYBB mutation, which probably originated during her lifetime in her bone marrow.
- - - - - - - - - -
ranking = 1
keywords = bone
(Clic here for more details about this article)

12/48. 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 = 1
keywords = bone
(Clic here for more details about this article)

13/48. burkholderia gladioli osteomyelitis in association with chronic granulomatous disease: case report and review.

    We describe a case of insidious small bone osteomyelitis and soft tissue abscess with burkholderia gladioli in a 6-year-old Caucasian boy with chronic granulomatous disease. dna sequencing of the 16S ribosomal rna gene confirmed the bacterial identification. Clinical cure was achieved with a combination of antimicrobial therapy and surgical debridement. A review of infections caused by Burkholderia spp., other than burkholderia cepacia complex, in pediatric patients with chronic granulomatous disease is provided.
- - - - - - - - - -
ranking = 1
keywords = bone
(Clic here for more details about this article)

14/48. Postmortem diagnosis of chronic granulomatous disease: how worthwhile is it?

    A previously healthy 11 year old boy died unexpectedly after a rapid course of progressive pneumonia. Postmortem microbiology and histopathology suggested an underlying diagnosis of chronic granulomatous disease. This was confirmed by neutrophil oxidative burst and gene mutation analysis of other family members, one of whom benefited from early bone marrow transplantation.
- - - - - - - - - -
ranking = 1
keywords = bone
(Clic here for more details about this article)

15/48. Successful renal transplantation in patients with chronic granulomatous disease.

    Chronic granulomatous disease (CGD) is a genetic disease caused by structural mutations in the enzyme nadph oxidase that results in severe immunodeficiency. End-stage renal disease occurs in this patient population, and is often attributed to the necessary use of nephrotoxic anti-infectives. In this report, we present the experiences of two centers in transplantation of three patients with CGD: one transplanted with CGD, one cured of his CGD with bone marrow transplantation who subsequently underwent kidney transplantation and one that received a kidney transplant prior to being cured of CGD via a sequential peripheral blood stem cell transplant (SCT). All three recipients have enjoyed excellent outcomes. Their courses demonstrate the absolute requirements for a multidisciplinary and compulsive approach before, during and after transplantation. These case reports also highlight the unexpectedly benign effects of immunosuppressive therapy in this patient population.
- - - - - - - - - -
ranking = 1
keywords = bone
(Clic here for more details about this article)

16/48. Granulocyte-macrophage colony stimulating factor does not improve neutrophil oxidative metabolism in a patient with variant X-linked chronic granulomatous disease.

    Variant X-linked chronic granulomatous disease (CGD) is characterised by a decreased but still measurable respiratory burst and cytochrome b content of phagocytes resulting in a clinically milder form of the disease. We examined the in vivo effect of recombinant human granulocyte-macrophage colony stimulating factor (rh-GM-CSF) on the neutrophil functions of a patient treated for liver abscess. The number of white blood cells was markedly increased at the highest dose of GM-CSF injected (30 micrograms/kg per day). This was mainly due to a large increase in eosinophils and to a lesser extent in neutrophils. No change in the deficient neutrophil respiratory burst nitroblue tetrazolium (NBT)-reduction, superoxide (O2-)-production and cytochrome b content was observed during 6 weeks of therapy with increasing doses of GM-CSF. No significant clinical improvement of the liver abscess was observed during treatment with GM-CSF.
- - - - - - - - - -
ranking = 1725.461011664
keywords = macrophage
(Clic here for more details about this article)

17/48. Allogeneic bone marrow transplantation with reduced intensity conditioning for chronic granulomatous disease complicated by invasive aspergillus infection.

    Chronic granulomatous disease (CGD) is a rare disorder characterized by recurrent infections, often resulting in impaired quality of life and death. Allogeneic BMT provides a definitive cure for CGD, but carries a significant risk of mortality and morbidity. The risk is higher for those who have invasive fungal infection prior to transplant. Reduced intensity conditioning (RIC) is associated with less toxicity from the conditioning agents and may provide an alternative option for all non-malignant diseases. We report a case of successful allogeneic BMT after RIC for a case of X-linked CGD complicated by severe invasive aspergillosis (IA).
- - - - - - - - - -
ranking = 4
keywords = bone
(Clic here for more details about this article)

18/48. Intractable colitis associated with chronic granulomatous disease.

    The case of a 20-year-old Japanese man, diagnosed as having autosomal recessive chronic granulomatous disease (CGD), who was being treated with corticosteroids for intractable unclassified colitis, is described. He died from multiple organ failure following disseminated intravascular coagulation secondary to disseminated varicella-zoster virus (VZV) infection. He was diagnosed as an index case of CGD when 2 years old, was inoculated against VZV at the age of 5 years and had had an unremarkable course for 19 years. He was admitted to hospital because of a third episode of recurrent bloody diarrhoea. Clinical remission for each episode was achieved by intravenous corticosteroid therapy. Unclassified colitis associated with CGD was diagnosed based on a colonic biopsy demonstrating characteristic macrophages with lipofuscin deposits. From a treatment viewpoint, idiopathic inflammatory bowel disease (IBD) should be differentiated from secondary IBD occurring in CGD, in which immunosuppressive drugs including corticosteroids, still the mainstay of IBD treatment, should be avoided.
- - - - - - - - - -
ranking = 345.0922023328
keywords = macrophage
(Clic here for more details about this article)

19/48. Successful bone marrow transplantation in an 8-month-old patient with chronic granulomatous disease.

    An eight-month-old boy with chronic granulomatous disease (CGD) received HLA identical sibling bone marrow transplantation (BMT) following busulphan and cyclophosphamide conditioning. No graft-versus-host disease was demonstrated. Five years after transplantation, mixed chimerism was 60% in peripheral blood, and 85% of his neutrophils had normal oxidative burst activity. He is now six years old, in very good health and growing well. In this period, he experienced no severe infectious diseases. To our knowledge, this is the first case of CGD who had BMT in turkey. His successful outcome illustrates that BMT in a patient with CGD in the first years of life should be considered early if an HLA-matched donor is already available, before development of any recurrent life-threatening infections or irreversible organ damage.
- - - - - - - - - -
ranking = 5
keywords = bone
(Clic here for more details about this article)

20/48. Recombinant human interferon-gamma as adjunct therapy for aspergillus infection in a patient with chronic granulomatous disease.

    The hallmark of chronic granulomatous disease (CGD) is defective killing of ingested microorganisms by phagocytic cells. Invasive aspergillosis in CGD patients is particularly virulent and has a mortality rate of approximately 50%. A patient with autosomal recessive CGD was identified who had progressive pulmonary aspergillosis that was unresponsive to conventional antifungal therapy. She was treated with recombinant human interferon-gamma (rHuIFN-gamma) and had a dramatic improvement in clinical symptoms, sedimentation rate, and radiographic scans. No consistent improvement in bactericidal function or neutrophil oxidative capacity could be demonstrated. However, serum neopterin levels, a measure of macrophage activation, increased in a dose-dependent manner with rHuIFN-gamma therapy; increased levels mirrored the improved clinical parameters. This patient's treatment illustrates the usefulness of the single-photon emission computed tomography (SPECT) gallium scan for following pulmonary inflammatory lesions in the presence of fibrosis and indicates that rHuIFN-gamma may be of benefit to CGD patients with serious infections unresponsive to conventional therapy.
- - - - - - - - - -
ranking = 345.0922023328
keywords = macrophage
(Clic here for more details about this article)
<- Previous || Next ->


Leave a message about 'Granulomatous Disease, Chronic'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.