CD40 ligand deficiency presenting as unresponsive neutropenia.

Andrews, F J; Katz, F; Jones, A; Smith, S; Finn, A · Arch Dis Child · 1996

case_report · Level V

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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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