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Query: UMLS:C0021051 (immunodeficiency)
 71,517 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Yesterday's immunodeficiencies emphasized the clinical and familial associations of the syndromes and date from the 1920s (ataxia-telangiectasia, chronic mucocutaneous candidiasis), the 1930s (Wiskott-Aldrich syndrome), skipping the 1940s, but blossoming in the 15-y period from 1950 to 1965. In this period, primary immunodeficiencies affecting all the major limbs of the immune system were first described (1950: severe combined immunodeficiency; 1952: X-linked agammaglobulinemia; 1957: chronic granulomatous disease; 1965: C2 deficiency). Today's immunodeficiencies, as detailed in Stiehm's Immunologic Disorders in Infants and Children (Edition 1, 1973; Edition 2, 1980; and Edition 3, 1989) emphasize the immunologic and genetic aspects of immunodeficiency. These increased from 43 syndromes in the 1973 edition (34 primary, nine secondary) to 94 syndromes in the 1989 edition (66 primary, 28 secondary). This means that about two primary and one secondary immunodeficiencies have been uncovered annually. Tomorrow's immunodeficiencies, to be covered in Edition 4, will include new clinical and immunologic observations and molecular and biochemical studies that characterize some unique immunodeficiencies. These include the following six groups of defects: 1) neutropenic syndromes with hypogammaglobulinemia, including the WHIM syndrome; 2) phenotypic genetic syndromes with immunodeficiency including Bloom's syndrome and Schimke's immuno-osseous dysplasia; 3) natural killer cell defects associated with a) other primary immunodeficiencies, b) other nonimmunologic illness, and c) primary natural killer defects; 4) T-cell membrane defects; 5) IL defects; and 6) miscellaneous phagocytic illnesses including periodontitis and the asplenia syndrome.
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PMID:New and old immunodeficiencies. 843 70

Invasive disease caused by Streptococcus pneumoniae (SPn) is common among young children. Severe sepsis can be seen among those with primary or secondary immunodeficiency states. The absence of a spleen is a well-known risk factor for severe and overwhelming pneumococcal sepsis, as well as other encapsulated bacteria (e.g. Haemophilus influenzae type b (Hib), or Neisseria meningitidis). The most common cause of asplenia is surgical removal of the spleen (after trauma or as a treatment for various hematological conditions). Dysfunction of the spleen can also be seen in sickle cell disease, with high risk of invasive bacterial diseases. Primary congenital asplenia is rare. Congenital asplenia can be a part of Ivemark syndrome which is accompanied by other malformations. Isolated congenital asplenia is exceedingly rare. These patients can present with severe sepsis, meningitis or even sudden death. Overall, 31 cases have been reported, among them 17 were familial and the rest sporadic. The genetic bases for this rare life-threatening malformation are not known. The authors describe a one year old patient, presented with severe pneumococcal sepsis and multisystem organ failure. Isolated congenital asplenia was demonstrated. The child recovered and is being treated according to the recommendations for adults with asplenia.
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PMID:[Isolated congenital asplenia--a rare cause of severe pneumococcal sepsis]. 2134 24