Fevers and mouth ulcers.
Mouth ulcers are commonly caused by infection but may be due to neutropenia. The most common form of hyper-IgM syndrome is of X-linked inheritance and caused by CD40 ligand gene mutations. Consider hyper-IgM syndrome in a male child with recurrent bacterial or opportunistic infections, neutropenia, hypogammaglobulinaemia (IgG and IgA) and normal T- and B-cell counts. In X-linked hyper-IgM syndrome: - the serum IgM concentration is normal in about 50% of cases. - transient or persistent neutropenia occurs in 70% of cases. First-line therapeutic options for hyper-IgM syndrome include regular intravenous immunoglobulin and prophylactic trimethoprimsulphamethoxazole.
Teo
J
J
The Children's Hospital at Westmead, NSW, Australia.
Codarini
M
M
D023201:CD40 Ligand / Q000235:genetics*; D003937:Diagnosis, Differential; D005334:Fever / Q000276:immunology*; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000175:diagnosis*; D007075:Immunoglobulin M / Q000097:blood*; D007223:Infant; D008297:Male; D019226:Oral Ulcer / Q000276:immunology*; D014960:X Chromosome / Q000235:genetics*
D007075:Immunoglobulin M; D023201:CD40 Ligand