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  • 1
    Keywords: ACTIVATION ; T-CELL ; IMMUNITY ; DEFICIENCY ; CARD11
    Abstract: BACKGROUND: Combined immunodeficiency (CID) is characterized by severe recurrent infections with normal numbers of T and B lymphocytes but with deficient cellular and humoral immunity. Most cases are sporadic, but autosomal recessive inheritance has been described. In most cases, the cause of CID remains unknown. OBJECTIVE: We wanted to identify the genetic cause of CID in 2 siblings, the products of a first-cousin marriage, who experienced recurrent bacterial and candidal infections with bronchiectasis, growth delay, and early death. METHODS: We performed immunologic, genetic, and biochemical studies in the 2 siblings, their family members, and healthy controls. Reconstitution studies were performed with T cells from mucosa-associated lymphoid tissue lymphoma-translocation gene 1-deficient (Malt1(-/-)) mice. RESULTS: The numbers of circulating T and B lymphocytes were normal, but T-cell proliferation to antigens and antibody responses to vaccination were severely impaired in both patients. Whole genome sequencing of 1 patient and her parents, followed by DNA sequencing of family members and healthy controls, showed the presence in both patients of a homozygous missense mutation in MALT1 that resulted in loss of protein expression. Analysis of T cells that were available on one of the patients showed severely impaired IkappaBalpha degradation and IL-2 production after activation, 2 events that depend on MALT1. In contrast to wild-type human MALT1, the patients' MALT1 mutant failed to correct defective nuclear factor-kappaB activation and IL-2 production in MALT1-deficient mouse T cells. CONCLUSIONS: An autosomal recessive form of CID is associated with homozygous mutations in MALT1. If future patients are found to be similarly affected, they should be considered as candidates for allogeneic hematopoietic cell transplantation.
    Type of Publication: Journal article published
    PubMed ID: 23727036
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  • 2
    ISSN: 1432-0584
    Keywords: Differentiation ; 5′ Nucleotidase ; Lymphocyte colonies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Ecto 5′ nucleotidase (5′ NT) activity and T lymphocyte colony formation (TLCF) are both reputed to be markers for lymphocyte maturation. In order to determine whether these two expressions of lymphocyte activity are related, we compared 5′ NT activity with the TLC forming capacity of mononuclear cells from three study groups: normal adults, cord blood, and patients with immunodeficiencies. Despite individual examples of correlation between these two measurements, there was poor overall correlation in any of the groups studied. Although both measurements may reflect maturation of certain cellular activities, these are unlikely to be related.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Three cases are reported of the association of childhood onset of thoracic aortic calcification with mucocutaneous candidiasis, endocrine dysfunction and recurrent non-fungal pulmonary disease. The aortic calcification affects the thoracic aorta and the low lumbar aorta and common iliac arteries, sparing the mid-lumbar aorta and its major branches. Ischemic signs and symptoms of the head and neck and lower limbs are absent. This peculiar, slowly progressive vascular calcification, although unexplained to date, appears to be a non-random part of the more common candidiasis-endocrinopathy syndrome.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1573-0603
    Keywords: Dithizone staining ; Islet isolation ; Neonatal piglet ; Pancreatic islets ; Static-perifusion assay
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary Pancreatic islet transplantation shows promise as a future method for the treatment of insulin-dependent diabetes mellitus. However, as with reports of whole organ transplants in man, there are likely to be too few human donor organs. One potential approach to try and circumvent this problem is to seek alternative sources of pancreatic tissue. We have studied and developed a technique for isolating functional islets from one-day-old piglets with this in mind. Twelve pancreata, mean weight 1.27±0.36 g, were retrieved aseptically. The islets were isolated using a collagenase digestion procedure. An average of 116,000±45,000 islets/g tissue were isolated from each pancreas. After 24–48 h of culturing, a membrane-boundary was formed around the islets. Dithizone (DTZ) staining revealed greater than 50% of the presumed islets contained at least 5–6 red stained cells (i.e. insulin-containing cells). The insulin content of islet-like structures containing 50%, 10%, and 0% of DTZ stained cells was measured and revealed 32.1, 10.8 and 2.9 µIU, respectively, of immuno-reactive-insulin. In static-perfusion assays, a biphasic insulin secretion was observed in response to increased glucose stimuli. Preliminary studies showed that these islets were able to reverse the hyperglycemic condition of streptozotocin-induced diabetic rats. The present study indicates that one-day-old piglet islets can be utilized as the source of functioning islet cells. Isolation of these cells is reproducible and there appears to be no advantage technically and economically in using fetal pig pancreatic tissue rather than tissue from neonatal piglets for the purpose of obtaining pancreatic islets.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 17 (1994), S. 250-251 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-1998
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Hyper IgE syndrome is a rare disease consisting of recurrent sinusitis and pneumonia, pneumatoceles, chronic dermatitis, and elevated serum levels of IgE. The primary radiographic abnormalities are recurrent alveolar lung disease and pneumatoceles. Pneumothorax may occasionally occur as in one of our cases. Other causes of pneumatoceles are usually easily excluded by the history and other clinical data. Pulmonary scintigraphy and computed tomography may add information valuable to the management of these patients.
    Type of Medium: Electronic Resource
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