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Beware the lymphopenia: A case of severe combined immunodeficiency
Author(s) -
Mehr Sam,
Kakakios Alyson,
Shaw Peter,
Webster Richard,
Kemp Andrew
Publication year - 2011
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.2010.01870.x
Subject(s) - medicine , adenosine deaminase deficiency , pneumocystis carinii , adenosine deaminase , severe combined immunodeficiency , pneumonia , immunodeficiency , meningitis , immunology , pediatrics , opportunistic infection , human immunodeficiency virus (hiv) , adenosine , viral disease , immune system , biochemistry , chemistry , gene , pneumocystis jirovecii
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.