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CD40 ligand deficiency presenting as unresponsive neutropenia.
  1. F J Andrews,
  2. F Katz,
  3. A Jones,
  4. S Smith,
  5. A Finn
  1. Department of Paediatrics, University of Sheffield, Children's Hospital.

    Abstract

    A male child presented with recurrent respiratory infections, otitis media, and oral ulceration and was found to be neutropenic. Investigations showed hypogammaglobulinaemia with normal serum IgM and a novel deletion in the gene for CD40 ligand on his X chromosome. Intravenous gammaglobulin did not lead to resolution of his neutropenia; G-CSF was also necessary.

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