An adult diagnosed as hyper-IgM immunodeficiency syndrome.
A 27-year-old male who visited our hospital because of pneumonia was diagnosed as hyper-IgM immunodeficiency syndrome. His serum IgM level was markedly elevated, while the serum level of IgD was normal with a markedly decreased level of serum IgG and IgA. The proportion of T and B cells of peripheral blood lymphocytes was normal. However, B cells bearing surface IgG or IgA were not detectable by immunofluorescence technique. There was a consanguineous marriage in his family, suggesting that his disorder was caused by a genetic abnormality such as X-linked recessive and also autosomal recessive inheritance, although further study is necessary. CD40 ligand cDNA did not appear to contain any abnormal changes within the coding region.
D000328:Adult; D006801:Humans; D017098:IgA Deficiency / Q000175:diagnosis / Q000235:genetics; D017099:IgG Deficiency / Q000175:diagnosis / Q000235:genetics; D007075:Immunoglobulin M / Q000097:blood*; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010375:Pedigree; D018410:Pneumonia, Bacterial / Q000276:immunology*; D012008:Recurrence
D007075:Immunoglobulin M