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CD40 ligand deficiency presenting as unresponsive neutropenia
1Department of Paediatrics, University of Sheffield, Children's Hospital.
Archives of Disease in Childhood
|May 1, 1996
Summary
A boy with recurrent infections and neutropenia had a novel CD40 ligand gene deletion. Treatment required granulocyte-colony stimulating factor (G-CSF) alongside intravenous immunoglobulin therapy.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Recurrent infections and neutropenia in children can indicate primary immunodeficiency.
- CD40 ligand (CD40L) deficiency is an X-linked immunodeficiency affecting B and T cell function.
Observation:
- A male child presented with recurrent respiratory infections, otitis media, oral ulcerations, and neutropenia.
- Investigations revealed hypogammaglobulinaemia with normal serum IgM levels.
Findings:
- A novel deletion in the CD40 ligand gene on the X chromosome was identified.
- Intravenous immunoglobulin therapy did not resolve the neutropenia.
Implications:
- This case highlights a rare genetic cause of X-linked immunodeficiency.
- Combined therapy with intravenous immunoglobulin and G-CSF may be necessary for managing neutropenia in CD40L deficiency.