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Glanzmann-Riniker syndrome

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This hereditary, severe mixed immunodeficiency syndrome is a Swiss type agammaglobulinaemia with absence of the thymus, severe cytopenia, susceptibility to bacterial, fungal, and viral infections and failure to form antibodies. There is watery diarrhea with Salmonella and Escherichia coli in the stools, and lung abscesses caused by Pseudomonas aeruginosa and Pneumocystis carinii pneumonia. Onset from early infancy, usually 3 - 6 months, failure to thrive, and death within the first 2 years of life. Male to female rate 3: 1. Inheritance is either autosomal recessive or X-linked.


  • E. Glanzmann, P. Riniker:
    Essentielle Lymphocytophtie. Ein neues Krankheitsbild aus der Säuglingspathologie. Annales paediatrici. International Review of Pediatrics, Basel, 1950, 175; 1-32.

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