Library

X
feed icon rss

Your email was sent successfully. Check your inbox.

An error occurred while sending the email. Please try again.

Proceed reservation?

Export
  • 1
    Electronic Resource
    Electronic Resource
    X chromosome inactivation analysis to distinguish sporadic cases of X-linked agammaglobulinaemia from common variable immunodeficiency (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 900-904 
    Details
    ISSN: 1432-1076
    Keywords: X-linked agammaglobulinaemia ; Carrier detection ; Common variable immunodeficiency ; X chromosome inactivation analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The X chromosome inactivation analysis of eight female relatives was performed to elucidate the X chromosome gene defect of six male hypogammaglobulinaemic individuals. The patients had diminished numbers of circulating B-cells and no relevant family history. The methylation status of three X-linked genes, phosphoglycerate kinase, hypoxanthine phosphoribosyl transferase and DXS255, was determined on DNA from Epstein-Barr virus-transformed B-cell lines established from the female relatives. The methylation pattern of at least one gene was informative in all eight females examined. While both alleles were equally methylated in four of eight females, the remaining four female relatives of three hypogammaglobulinaemia patients exhibited a non-random methylation pattern in their B-cells, suggesting that these three patients represented sporadic cases of X-linked agammaglobulinaemia (XLA). The clinical or immunological status of these three patients did not differ from the remaining two who had early onset hypogammaglobulinaemia and who were tentatively diagnosed as having common variable immunodeficiency. The sixth patient had recurrent infections after undergoing surgical removal of a brain tumour at 22 years of age, although his immunological features did not distinguish him from the other patients. X chromosome inactivation analysis can be useful in differentiating XLA from hypogammaglobulinaemia in male patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957526
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 2
    Electronic Resource
    Electronic Resource
    Interleukin-2 receptor γ-chain mutations in severe combined immunodeficiency with B-lymphocytes (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 1018-1024 
    Details
    ISSN: 1432-1076
    Keywords: Key words IL-2R γ-chain ; Severe ; combined immunodeficiency ; Mutation analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Severe combined immunodeficiency (SCID) with a normal number of B-lymphocytes usually demonstrates an X-linked inheritance and now is regarded as an interleukin-2-receptor (IL-2R) γ-chain gene defect. Here, we report the characterization of mutations in the IL-2R γ-chain gene of six unrelated SCID patients. One large deletion, one short deletion, one nonsense mutation and three single missense mutations were identified. The missense mutations were located near the motifs common to members of the class I cytokine receptor family. Two of the missense mutations were the same as previously reported in spite of the difference of ethnic backgrounds. The remaining four patients had newly identified mutations. Conclusion Our results emphasize the broad molecular heterogeneity of X-linked SCID and suggest the presence of mutational “hot spots” within the IL-2R γ-chain gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050525
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    In vitro analysis of lymphocyte functions in common variable immunodeficiency: heterogeneity in B-cell defects (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 252-257 
    Details
    ISSN: 1432-1076
    Keywords: Common variable immunodeficiency ; T, B co-culture ; B-cell defect
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Ten patients with common variable immunodeficiency were classified into three groups according to the number of circulating B-cells, i.e. B-cells being absent (three patients), very low (three patients) or within the normal range (four patients). The four patients in the last group showed significant proliferative responses to the T-independent B-cell mitogen, formalin-fixed Staphylococcus aureus, Cowan I. Further study of these patients by co-cultures with allogeneic T or B-cells in various combinations with pokeweed mitogen showed that two patients had an intrinsic B-cell defect without T-cell defect. The third patient had a T-cell dysfunction (i.e. his T-cell could only help the B-cells of some individuals) resulting in a defect in Ig production. The T-cells of the fourth patient showed poor helper function towards all controls. All six patients with absent or very low numbers of B-cells in group I and II had normal T-cell helper function. This study demonstrates that the immunological defect in common variable immunodeficiency is most often a B-cell defect at different stages of their differentiation with sometimes an additional T-cell dysfunction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00439395
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 4
    Electronic Resource
    Electronic Resource
    Necrotizing toxoplasmic encephalitis in a child with the X-linked hyper-IgM syndrome (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 735-737 
    Details
    ISSN: 1432-1076
    Keywords: Key words Hyper-IgM syndrome ; CD40 ligand ; Necrotizing toxoplasmic encephalitis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a 9-year-old boy with the hyper-IgM syndrome who presented with rapid impairment of consciousness. The brain CT scan showed multiple round lucencies, and the brain histology revealed necrotizing toxoplasmic encephalitis. This patient, whose CD40/CD40 ligand system was impaired, indicates the importance of this system for defence against toxoplasmic infection. Conclusion Although disseminated toxoplasmosis is a rare complication of the hyper-IgM syndrome, it must be included in the differential diagnosis of infections.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050925
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 5
    Electronic Resource
    Electronic Resource
    Effect of infused L-threo-3,4-dihydroxyphenylserine on adrenergic activity in patients with familial amyloid polyneuropathy (1980)
    Springer
    European journal of clinical pharmacology 17 (1980), S. 429-435 
    Details
    ISSN: 1432-1041
    Keywords: L-threo-3,4-dihydroxyphenylserine ; norepinephrine ; octopamine ; dopamine-β-hydroxylase ; familial amyloid polyneuropathy denervation supersensitivity ; autonomic dysfunction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary L-threo-3,4-dihydroxyphenylserine (DOPS), an immediate precursor amino acid of (-)-norepinephrine, was used as a pharmacological tool to investigate the pathophysiology of the peripheral sympathetic nervous system in Type 1 familial amyloid polyneuropathy. Patients with the well-established disorder showed an enhanced pressor reponse to L-threo-DOPS under conditions that produced no change in normal subjects. While octopamine induced a brisk pressor response, L-threo-DOPS produced a slow and prolonged change in blood pressure, with a marked concomitant increase in urinary excretion of norepinephrine. A slight increase in urinary excretion of total metanephrine was observed in both groups, but there was no significant increase in serum dopamine-β-hydroxylase activity. Since infusion of dilute norepinephrine into patients also produced a markedly hypersensitive response, the characteristic pressor response to L-threo-DOPS was indicative of denervation supersensitivity of adrenergic receptors to norepinephrine formed enzymatically from L-threo-DOPS.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00570160
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 6
    Electronic Resource
    Electronic Resource
    Isolation of catecholamines in biological fluids by boric acid gel
    Amsterdam : Elsevier
    Analytical Biochemistry 77 (1977), S. 18-24 
    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(77)90285-8
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
Close ⊗
This website uses cookies and the analysis tool Matomo. More information can be found here...