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  • Title: The discovery of agammaglobulinaemia in 1952.
    Author: Hitzig WH.
    Journal: Eur J Pediatr; 2003 May; 162(5):289-304. PubMed ID: 12692709.
    Abstract:
    UNLABELLED: Fifty years ago a new disease, agammaglobulinaemia, was described. This was made possible by a great number of preceding technical innovations and theories on different fields of research, in particular haematology, microbiology/immunology and basic sciences. The widely used name "Bruton disease" credits one single man with a new observation which, however, was simultaneously made by several physicians. Agammaglobulinaemia was the first example of an immunodeficiency syndrome (IDS). Based on new facts, new ideas emerged which in turn gave rise to innovative research, concerning both clinical observations and basic problems. Many similar diseases, usually resulting from a genetic defect, were described. Since 1970, an International Committee appointed by the WHO, has, with periodic reassessments, been working on the classification of the syndromes. All participants of an efficient immune reaction can be deficient in individual patients, that is: antibodies, lymphocytes, phagocytes and complement. Basic scientists presented striking results concerning the structure and action of all elements mentioned above. CONCLUSION: mutual stimuli coming from observations in families and from gene technology have resulted in the elucidation of the genetic defects of most IDS. Recent results of genetic engineering seem to justify some hope for success in therapy.
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