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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 149 (1989), S. 175-176 
    ISSN: 1432-1076
    Keywords: Common variable immunodeficiency ; IgG subclass deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 3-year-old boy who developed common variable immunodeficiency was investigated for the development of hypogammaglobulinaemia. During a period of 4 years, the combined deficiency of IgA, IgG2 and IgG4 proceeded to include IgG1 and finally IgG3 and IgM. This order of isotypes of IgG subclass deficiencies corresponded to the gene order for the heavy chain constant region for immunoglobulins on chromosome 14.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Chronic granulomatous disease ; Cytochrome b ; Cell surface expression ; 7D5 ; Monoclonal antibody
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The polymorphonuclear (PMN) cells from a patient with cytochrome b positive X-linked chronic granulomatous disease (Xb+CGD) were studied using flow cytometry. Both the cell surface expression of monoclonal antibody defined cytochrome b and the superoxide production (intracellular 2′, 7′-Dichlorofluorescin Diacetate oxidation) were investigated at a single cell level. Flow cytometry clearly demonstrated the complete absence of superoxide production in the patient's PMN cells, the mosaicism in his mother's PMN cells and also indicated the normal cell surface expression of cytochrome b. The results obtained by Western blot analysis and reduced-minus-oxidized spectra confirmed the presence of functional and normal amounts of cytochrome b. We concluded that this is a case of Xb+CGD with a normal cell surface expression of cytochrome b.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: X-linked auto-immune enteropathy ; Haemo lytic anaemia ; Polyendocrinopathy ; Cyclosporin A
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three cases of X-linked auto-immune enteropathy with haemolytic anaemia and polyendocrinopathy are described from one related Japanese kindred. Two boys had died due to severe diarrhoea accompanied by total or subtotal intestinal villous atrophy.In contrast, although one patient showed the same symptoms and had circulating IgG antibodies against enterocytes, his condition improved dramatically and he developed well following the use of cyclosporin A (CSA). CSA may be beneficial in patients with this rare disorder. Auto-immune enteropathy should be considered as a cause of protracted diarrhoea with unknown aetiology.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: X-linked chronic granulomatous disease ; Mutant cytochrome b heavy chain ; Point mutation ; Molecular genetic analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Molecular genetic analysis was performed in a patient with cytochrome b positive X-linked chronic granulomatous disease. A previous Southern blot study, using a cytochrome b heavy chain cDNA as probe, revealed a Pst I restriction fragment pattern for the cytochrome b heavy chain gene (CYBB) different to that of normal individuals. Since restriction length polymorphism with Pst I has never been observed in control individuals and no abnormal restriction fragment patterns in the patient's CYBB was detected with seven other enzymes used, we focussed on the single Pst I site in the CYBB cDNA as being the only mutation site responsible for his disease. A fragment of the patient's cDNA which included the Pst I site was amplified by reverse polymerase chain reaction, and loss of the Pst I site in the fragment was confirmed by incubation with Pst I. Subsequent sequence analysis of the fragment revealed a point mutation in the Pst I site (cytosine to adenine), substituting glutamic acid for alanine at position 57.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. 890-894 
    ISSN: 1432-1076
    Keywords: Sjögren syndrome ; Renal tubular acidosis ; Interstitial nephritis ; Central nervous system disorder ; Chronic thyroiditis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Sjögren syndrome (SS) is a common disorder in adults and involves both glandular and extraglandular systems. We report here four cases of childhood SS complicated by chronic thyroiditis, interstitial nephritis or sweat gland inflammation. Additionally, in one of these cases, the central nervous system was involved. All of these complications are common in adult cases.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 155 (1996), S. 890-894 
    ISSN: 1432-1076
    Keywords: Key words Sjögren syndrome ; Renal tubular acidosis ; Interstitial ; nephritis ; Central nervous system ; disorder ; Chronic thyroiditis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Sjögren syndrome (SS) is a common disorder in adults and involves both glandular and extraglandular systems. We report here four cases of childhood SS complicated by chronic thyroiditis, interstitial nephritis or sweat gland inflammation. Additionally, in one of these cases, the central nervous system was involved. All of these complications are common in adult cases. Conclusion Childhood SS is a systemic “ductilitis” or “exocrinopathy” with complications which are commonly observed in adult cases.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Clinical & experimental allergy 22 (1992), S. 0 
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We have studied the levels of eosinophil cationic protein (ECP) and tumour necrosis factor (TNF) in peripheral blood obtained from 68 children with bronchial asthma and 11 children with atopic dermatitis. The ECP mean concentrations of the patients were 23.7 ± 21.4 μg/1 and 21.2 ± 18.7 μg/1 for bronchial asthma and atopic dermatitis respectively, which were significantly higher than the control value, 5.8 ± 2.3 μg/1 (P 〈 0.005). TNF was unmeasurable in almost all the samples and no significant difference was observed between normal controls and asthmatic children. A significant correlation was observed between serum levels of ECP and blood eosinophil counts in both diseases (r=0.873; P 〈 0.01 and r=0.740; P 〈 0.01, respectively). However, no obvious correlation was observed between serum levels of ECP and IgE levels. ECP levels were significantly reduced by treatment and normalized in parallel with blood eosinophil counts in the patients with total IgE levels less than 800 U/ml. Irrespective of the total IgE levels, the reduction of serum ECP levels was correlated with a decrease in the number of asthmatic attacks and/or improvement of pulmonary function. These results suggest that the ECP levels in peripheral blood indicate an increased activity of eosinophil and would be a more useful marker than eosinophil counts for making clinical analyses and estimating treatment efficacy in paediatric patients with allergic diseases.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background The mite allergens are recognized as major causes of allergic disease such as bronchial asthma, allergic rhinitis and atopic dermatitis. The functions of allergen-specific IgG subclass antibodies are not defined.Objective In order to clarify the relationship between IgE and IgG subclasses, we examined scrum levels of the Dermatophagoides pteronyssisus group 2 (Der p 2)-specific antibodies of IgH. IgG total and IgG subclasses in children with mite allergy.Methods We prepared a recombinant Der p 2 fusion protein and examined serum levels of Der p 2 antigen-specific antibodies by enzyme-linked immunosorbent assay (FLISA) systems developed in our laboratory using a recombinant Der p 2 as target antigen. Sera from 240 children with mite allergy and 25 controls were measured.Results The serum levels of specific IgE and, to lesser degree, lgG4 were higher in allergic children than non-allergic controls, while in the levels of the other IgG subclasses there was no difference between the two groups. There was no correlation between levels of specific IgF and IgG4 or in those between specific IgG4 and other IgG subclasses.Conclusion Results indicate that the induction of Der p 2-specific lgG4 in allergic diseases is independent to IgE as well as other IgG subclasses.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report an 11-year-old boy with diffuse pulmonary arteriovenous fistula (multiple telangiectasia type). Contrast echocardiography proved R to L shunting at the peripheral levels of the lungs. A definitive diagnosis was obtained by pulmonary arteriography.
    Type of Medium: Electronic Resource
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