CD40 ligand deficiency presenting as unresponsive neutropenia.
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.
Andrews
F J
FJ
Department of Paediatrics, University of Sheffield, Children's Hospital.
Katz
F
F
Jones
A
A
Smith
S
S
Finn
A
A
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
D019013:CD40 Antigens; D007075:Immunoglobulin M