title: CD40 ligand deficiency presenting as unresponsive neutropenia.
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.
authors.affiliation: Department of Paediatrics, University of Sheffield, Children's Hospital.
authors.forename: F J
authors.initials: FJ
authors.lastname: Andrews
authors.forename: F
authors.initials: F
authors.lastname: Katz
authors.forename: A
authors.initials: A
authors.lastname: Jones
authors.forename: S
authors.initials: S
authors.lastname: Smith
authors.forename: A
authors.initials: A
authors.lastname: Finn
mesh_terms: D000361:Agammaglobulinemia / Q000150:complications* / Q000235:genetics / Q000276:immunology; D019013:CD40 Antigens / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D007075:Immunoglobulin M / Q000097:blood; D007223:Infant; D008297:Male; D009503:Neutropenia / Q000209:etiology* / Q000235:genetics / Q000276:immunology; D009894:Opportunistic Infections / Q000209:etiology / Q000235:genetics / Q000276:immunology
chemical_list: D019013:CD40 Antigens; D007075:Immunoglobulin M