1/6. A case of impaired chemotaxis and lymphocyte transformation.The report describes the clinical syndroms of a 14-year-old boy which suffered from recurrent infections since early infancy. The clinical and general laboratory findings were similar to "the granulomatous disease of childhood" as described by Bridges et al. (8). The following serum factors were determined: immunoglobulins, complement factors, isoagglutinins. The following assays with normal or patient's granulocytes were done: Chemotactic activity, nitroblue-tetrazolium test, bactericidal assay, fungicidal assay, myeloperoxidase, monocytes fungicidal assay. Immunological studies include kinetics of phytohaemagglutinin response, effect of serum of the patient on lymphocytic reactivity in vitro and skin tests. The following results were obtained: 1) Assays with normal or patient's granulocytes showed an impaired chemotatic activity, when serum of the patient was added. There was strong indication by treatment of the patient with plasma infusions, that the chemotactic defect is a serum dependent factor. 2) It could be demonstrated that the patient's serum also inhibited the response of lymphocytes to tuberculin and phytohaemagglutinin. Therefore the patient report focuses attention upon the possibility of serum related abnormalities that may influence granulocytic as well as lymphocytic functions leading to recurrent bacterial, fungal and viral infections.- - - - - - - - - - ranking = 1keywords = granulomatous disease (Clic here for more details about this article) |
2/6. association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections.patients with severe leukocyte G6PD deficiency may present with impairment of nadph oxidase activity and a history of recurrent infections, mimicking the phenotype of chronic granulomatous disease. We report herein a child with recurrent infections who initially received the diagnosis of G6PD deficiency. His erythrocyte G6PD activity was reduced: 1.8 U/g Hb (normal: 12.1 /- 2.1 U/g Hb). Further studies revealed that G6PD activity in neutrophils, mononuclear leukocytes, and Epstein-Barr virus-transformed b-lymphocytes from the proband was similar to healthy controls. Molecular studies showed that the G6PD deficiency was due a 202 G-->A mutation, the A- variant common in African ethnic groups. The proband also exhibited severely impaired respiratory burst activity, as observed in X-linked CGD. sequence analysis of genomic dna showed a 264 G-->A substitution at the 3' splice junction of gp91-phox exon 3. The cDNA sequence showed a deletion of gp91-phox exon 3, giving rise to an unstable or nonfunctional mutant gp91-phox and to the phenotype of X-linked CGD. We propose that clinicians treating a patient with G6PD deficiency during a severe infection episode consider the possibility of temporary or permanent impairment of the phagocytes' microbicidal activity and the eventual association of G6PD deficiency and chronic granulomatous disease.- - - - - - - - - - ranking = 6keywords = granulomatous disease (Clic here for more details about this article) |
3/6. Chronic granulomatous disease in two Chinese families.Two Chinese families with X-linked chronic granulomatous disease (CGD) are reported. The first case was an 11-month-old male baby and the second a 2-month-old male baby. Both patients presented with persistent infections caused by staphylococcus and candida since birth. Neutrophil functions were studied in patients and a number of family members. chemotaxis and phagocytosis were normal in every subject. Slide and spectrophotometric nitroblue tetrazolium (NBT) tests of both patients were abnormal and remained unchanged in spite of treatment with ascorbic acid, levamisole, sulfamethoxazole, trimethoprim and isoniazide. mothers were proved to be carriers as evidenced by the presence of both normal and CGD phagocytes in the slide NBT test. During the 2-month follow-up period, the percentage of normal phagocytes from the mother of case 1 varied from 12% to 73%, which correlated with the fluctuation of spectrophotometric NBT value. The slide NBT test of the mother of case 2 was nearly normal in face of the presence of CGD phagocytes. Both carrier mothers were healthy and asymptomatic.- - - - - - - - - - ranking = 5keywords = granulomatous disease (Clic here for more details about this article) |
4/6. Recurrent severe infections in a girl with apparently variable expression of mosaicism for chronic granulomatous disease.A carrier of chronic granulomatous disease (CGD) has had recurrent severe purulent infections like those characteristic of CGD. The carrier state was demonstrated by the presence of both normal and CGD granulocytes in her blood; the percentage of normal granulocytes varied from 4% to 44% over 4 years. In addition, her granulocytes were partially defective in killing escherichia coli and staphylococci and in the release of superoxide anion during stimulation. Extensive evaluation of her immune system and phagocyte function failed to reveal a second abnormality. The course in this child indicates that the carrier state for X-linked CGD cannot be considered a benign condition and might be more properly conceptualized as a continuum in expression of the full disease. Screening assays for CGD should possess the capacity to diagnose carriers of the X-linked form of the disease.- - - - - - - - - - ranking = 5keywords = granulomatous disease (Clic here for more details about this article) |
5/6. Severe infectious complications in a girl suffering from atopic dermatitis were found to be due to chronic granulomatous disease.Recently, the diagnosis of a variant form of chronic granulomatous disease (CGD) could be established in an 11-year-old girl who had been treated for atopic dermatitis for many years. In addition to severe superinfections of lesions of the skin, the following symptoms were found currently or in her history: an episode of chronic diarrhoea (suspected as lactose intolerance), an endomyocarditis, a paranephritic abscess and recurrent lymph node abscesses. This case is demonstrated to underline the importance of extensive immunologic diagnostics in situations of recurrent severe infections of the skin, especially if other organs are involved. Diagnosis and type of CGD were strongly indicated by flow cytometrical measurement of H2O2 and cytochrome b558-expression by neutrophils and confirmed by a Western blot test. No immunoreactive p47phox could be found in the patient's cells. In this autosomal recessive variant of CGD some retained ability of phagocytes to produce reactive oxygen intermediates was present. Special management of patients with CGD is necessary to prevent serious infectious complications. Genetic counselling is another important consequence of the correct diagnosis.- - - - - - - - - - ranking = 5keywords = granulomatous disease (Clic here for more details about this article) |
6/6. Idiopathic cranial pachymeningoencephalitis focally affecting the parietal dura mater and adjacent brain parenchyma: case report.OBJECTIVE AND IMPORTANCE: Cranial pachymeningitis is a typically diffuse granulomatous disease, which often affects the tentorium and falx. We report a rare case of idiopathic cranial pachymeningoencephalitis focally affecting only the left parietal dura mater and adjacent inferior parietal lobule. CLINICAL PRESENTATION: A 46-year-old woman, with no history of disease, suddenly had a generalized convulsion. A gadolinium-enhanced T1-weighted magnetic resonance image showed homogeneously stained meninges extending to the cortical parenchyma with marked perifocal edema. The thickened dura was visualized as a hypointense area on a T2-weighted magnetic resonance image. INTERVENTION: The patient underwent successful en bloc excision of the mass involving the dura mater and adjacent brain parenchyma. Histological examination of the dura mater revealed large numbers of chronic and acute inflammatory cells. These cells were also present in the subarachnoid and Virchow-Robin spaces and part of the brain parenchyma in the resected cortex. After the operation, the patient experienced no neurological deficits or recurrent mass for 10 months. CONCLUSION: early diagnosis of pachymeningitis using magnetic resonance imaging is important for the treatment of pachymeningoencephalitis, because diffuse involvement of the dura mater and brain parenchyma can make en bloc excision difficult.- - - - - - - - - - ranking = 1keywords = granulomatous disease (Clic here for more details about this article) |