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Beware the lymphopenia: a case of severe combined immunodeficiency
Authors:Mehr Sam  Kakakios Alyson  Shaw Peter  Webster Richard  Kemp Andrew
Affiliation:Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia. samm@chw.edu.au
Abstract:We present a case of a 2-month-old boy with partially treated meningitis and suspected Pneumocystis carinii pneumonia. A full blood count revealed profound lymphopenia. The child was diagnosed with adenosine deaminase deficiency, a rare cause of severe combined immunodeficiency (SCID). SCID is an immunological emergency and must be considered in any lymphopaenic infant with opportunistic infection. We discuss adenosine deaminase-deficient SCID, which can involve multiple systems and in which other treatment options apart from bone marrow transplant are available.
Keywords:adenosine deaminase  lymphopenia  SCID
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