AN ADULT DIAGNOSED AS HYPER-IGM IMMUNODEFICIENCY SYNDROME

A 27-year-old male who visited our hospital because of pneumonia was d iagnosed as hyper-IgM immunodeficiency syndrome, His serum IgM level w as markedly elevated, while the serum level of IgD was normal with a m arkedly decreased level of serum IgG and IgA, The proportion of T and B cells of peripheral blood lymphocytes was normal, However, B cells b earing surface IgG or IgA were not detectable by immunofluorescence te chnique. There was a consanguineous marriage in his family, suggesting that his disorder was caused by a genetic abnormality such as X-linke d recessive and also autosomal recessive inheritance, although further study is necessary, CD40 ligand cDNA did not appear to contain any ab normal changes within the coding region.