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  • 1
    Electronic Resource
    Electronic Resource
    Hypoglycaemia induced by antibodies to insulin receptor following a bone marrow transplantation in an immunodeficient child (1989)
    Springer
    Diabetologia 32 (1989), S. 167-172 
    Details
    ISSN: 1432-0428
    Keywords: Insulin receptor ; tyrosine kinase ; insulin-like activity ; antibodies to insulin receptor
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Severe hypoglycaemia developed seven months after a bone marrow transplantation in a child with severe combined immunodeficiency. His serum exerted potent insulin-like activity: (a) it stimulated insulin receptor autophosphorylation and kinase activity in cell-free systems, this effect being additive to insulin; (b) it increased glucose transport in isolated soleus muscle. These insulin-like effects were due to immunoglobulins against the insulin receptor. Indeed, the patient serum immunoprecipitated human or murine insulin receptors from different tissues and inhibited insulin binding to receptor on human IM-9 lymphocytes. After corticoids and immunosuppressive therapy by azathioprine, the patient hypoglycaemic episodes disappeared, and concomitantly, the antibodies to insulin receptor were no longer detected, as judged by both immunoprecipitation of insulin receptor and stimulation of glucose transport.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00265089
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  • 2
    Electronic Resource
    Electronic Resource
    Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27β (1992)
    Springer
    Human genetics 〈Berlin〉 89 (1992), S. 223-228 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Whole-blood cells of obligate carriers of the X-linked Wiskott-Aldrich syndrome (WAS) exhibit nonrandom inactivation of the X-chromosomes. However, because of the limited polymorphism of the probes available, the X-methylation pattern can only be determined in a restricted proportion of females. We thus analysed a large set of normal females and members of WAS families, using the recently described marker M27β, which detects the hyperpolymorphic locus DXS255. The probe was used to detect differences in methylation between the active and inactive X-chromosome, and the findings were compared with the pattern obtained using the well-documented probes from the 5′ end of the PGK and HPRT genes. All the normal females were found to use either X-chromosome randomly, and there was complete correlation between the three probes in the populations studied. Segregation analysis performed with M27β and other related markers in the WAS families was fully in accordance with the X-inactivation data. The use of M27β, for both X-inactivation and segregation analysis of WAS kindreds, provides a basis for genetic counselling in the majority of families, including those with no surviving males.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00217127
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  • 3
    Electronic Resource
    Electronic Resource
    Skin lesions revealing neonatal acute leukemias with monocytic differentiation. A report of 3 cases (1996)
    Oxford, UK : Blackwell Publishing Ltd
    Journal of cutaneous pathology 23 (1996), S. 0 
    Details
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Acute myelo-monoblastic (AMML) and acute monoblastic (AML) leukemias have a bad prognosis, especially in children when occurring in the first months of life. We report 3 cases of such leukemias in which skin lesions preceded and revealed the leukaemia. For the 3 infants, cutaneous lesions appeared about one month before the other signs of leukaemia (2 AML and 1 AMML). Skin biopsies from all 3 infants revealed a heavy dermic infiltration by large cells with round or irregular vesicular nuclei and abundant pale cytoplasm. These atypical cells did not express any lymphoid markers but reacted strongly with monocytic-macrophagic antibodies (CD68, GDIS and CD14). Two infants were treated by mitoxanthrone and cytarabine with complete remission. The third one was not treated because of a very poor general status. Skin involvement is frequent in these non-lymphoid leukaemias (30% to 50% of cases). In only 7% of cases, leukemic skin lesions precede and reveal the other signs of leukemia by weeks or months. Then, it is very important to repeat the blood cell counts and to biopsy the skin lesions in order to make a diagnosis of leukemia as early as possible.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1600-0560.1996.tb01475.x
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  • 4
    Electronic Resource
    Electronic Resource
    A new ultramicrochemical assay for purine nucleoside phosphorylase
    Amsterdam : Elsevier
    Analytical Biochemistry 84 (1978), S. 147-153 
    Details
    ISSN: 0003-2697
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1016/0003-2697(78)90493-1
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Immunoelectron-microscopic Localization of Immunoglobulin A and Secretory Component in Jejunal Mucosa from Children with Coeliac Disease (1979)
    Oxford, UK : Blackwell Publishing Ltd
    Scandinavian journal of immunology 9 (1979), S. 0 
    Details
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Using peroxidase-lahelled antibodies, the ultrastructural localization of IgA and secretory component (SC) was investigated in duodeno-jejunal biopsies from six children with coeliac disease and compared wilh that observed in non-coeliac mucosa. In normal intestinal mucosa this study confirmed the presence of IgA in the rough endoplasmic reliculum and the pcrinuclear space of numerous subcpithelial plasma cells and on the lateral cell membranes of villous and especially crypt epithelial cells. SC was only detected in the epithelium and principally in crypt epithelium where it was identified in endoplasmic reticulum, Golgi saccules, perinuclear spaces and on lateral cell membranes. These findings support the suggestion that SC is synthesized mainly in crypt epithelium and acts as a receptor on epithelial cell membranes for dimeric IgA. In untreated coeliac patients, SC was observed at the same sites, but SC staining was reduced in damaged surface epithelial cells. The number of IgA immunocytes was increased and heavy deposits of IgA were found on basement membranes. In post-treatment biopsies, no abnormality was apparent. After re-exposure to gluten, depositions of IgA on basement membranes were the only early change. The unaltered distribution of SC and IgA in crypt epithelium strongly suggests thai the epithelial transport mechanism of secretory IgA is normal in coeliac disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-3083.1979.tb03066.x
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  • 6
    Electronic Resource
    Electronic Resource
    Intestinal, Salivary, and Tonsillar IgA and J-Chain Production in a Patient with Severe Deficiency of Serum IgA (1981)
    Oxford, UK : Blackwell Publishing Ltd
    Scandinavian journal of immunology 13 (1981), S. 0 
    Details
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: An 18-year-old man with tendency to respiratory infections had a serum IgA level of only 2% of normal whereas his salivary IgA amounted to 50% of the lower normal concentration range. Moreover, both the rectal and jejunal IgA-producing cell populations were of normal size. Nevertheless, a relative increase of salivary IgM and a distinctly raised number of IgM-producing cells in jejunal mucosa indicated an imbalance in his secretory immune system. This possibility was supported by the presence of an excess of J chain in most of his intestinal IgA immunocytes, probably reflecting a reduced synthetic rate of IgA. The number of tonsillar IgA-producing cells was only slightly below the normal range: most of them lacked J chain, as normal, and could thus be a source of his serum IgA, which was mainly monomeric. A marked deficiency of IgA-producing cells in his hone marrow supported the notion that this tissue site normally is the major source of monomeric IgA. This study suggests that a generally defective IgA system may he topically activated owing to the persistent antigenic and mitogenic load on mucosa-associated lymphoid tissues. Our findings are not consistent with a general regulative compartmentalization of monomer- and dimer-producing IgA immunocyte populations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-3083.1981.tb00140.x
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  • 7
    Electronic Resource
    Electronic Resource
    T-Cell Subset Analysis by Monoclonal Antibodies in Primary Immunodeficiences (1981)
    Oxford, UK : Blackwell Publishing Ltd
    Scandinavian journal of immunology 14 (1981), S. 0 
    Details
    ISSN: 1365-3083
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: T-cell subsets have been analysed in 23 cases of primary immunodeficiency with monoclonal antibodies. Functional assays investigating T-cell function—proliferative response to mitogens, antigens, and allogeneic cells, cytotoxicity generated against allogeneic target cells and helper function to pokeweed mitogen-induced immunoglobulin synthesis—were performed in parallel in the same patients. The results enabled us to delineate four groups of patients. The first group consisted of patients in whom marker and function studies show concordant data, with either normal or strongly decreased T-cell number and function. The second group consisted of patients in whom various degrees of functional abnormality coexist with subnormal T-cell number and increased suppressor T-cell proportion. In the third group, we collected all patients who showed functional deficiencies without marker abnormalities. Finally, there was a small group composed of patients whose T-cell pattern was strongly suggestive of abnormal differentiation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-3083.1981.tb00199.x
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  • 8
    Electronic Resource
    Electronic Resource
    Close linkage of random DNA fragments from Xq 21.3–22 to X-linked agammaglobulinaemia (XLA) (1987)
    Springer
    Human genetics 〈Berlin〉 77 (1987), S. 172-174 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Linkage analysis of 15 families affected by X-linked agammaglobulinaemia (XLA) showed close linkage with three probes located towards the centre of the long arm of the X chromosome. No cross-overs were found using pXG12 (DXS94) lod 6.6 or S21 (DXS17) lod 4.4. One cross-over was found with 19.2 (DXS3). This confirms and extends a previous linkage study (Kwan et al. 1986) which demonstrated linkage with S21 and 19.2. Of the families 14 were informative for either pXG12 or S21 and these probes should thus be of great diagnostic value. No evidence of heterogeneity was found in the XLA families but several cross-overs within this region were detected in a family with the X-linked hyper-IgM syndrome confirming this disease as a separate clinical entity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00272387
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    Paper (German National Licenses)
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  • 9
    Electronic Resource
    Electronic Resource
    A trans -acting class II regulatory gene unlinked to the MHC controls expression of HLA class II genes (1985)
    [s.l.] : Nature Publishing Group
    Nature 318 (1985), S. 291-293 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The expression of the entire class II multigene family is restricted to a limited number of cell types, is strictly regulated developmentally, and is coordinately induced by soluble mediators (such as y-interferon). Cells from class II-deficient SCID cases could thus provide a model for the study ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/318291a0
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  • 10
    Electronic Resource
    Electronic Resource
    Tandem translocation t(14;14) in isolated and clonal cells in ataxia telangiectasia are different (1983)
    Springer
    Human genetics 〈Berlin〉 63 (1983), S. 320-322 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In a patient affected by ataxia telangiectasia (AT), an invading clone with a t(14;14) was found in PHA-, but not in pokeweed-stimulated, lymphocytes. With high resolution R-banding, the proximal breakage was visualized at the junction of bands q11.1–q11.2. This breakpoint differs from that (q12) of noninvading rearrangements of chromosome 14 in AT and non-AT patients. These differences are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00274754
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