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  • Syndrome that is characterised by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection and failure to thrive. It has been recently described in two siblings born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotaemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.
  • Syndrome that is characterized by cataracts, otitis media, intestinal malabsorption, chronic respiratory infection and failure to thrive. It has been recently described in two siblings born to consanguineous parents. The patients also developed recurrent pneumonia and progressive azotemia leading to end-stage renal disease. Both children died of overwhelming infection (sepsis, meningitis). An autosomal recessive mode of inheritance was proposed.
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