An adult diagnosed as hyper-IgM immunodeficiency syndrome
| Autor: | Yoshihisa Wakabayashi, Shyozo Chiba, Kimiharu Uozumi, Akira Hirasawa, Sato T, Tetsuo Nishikawa, Kouichirou Takeuchi |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Adult
Male Hyper-IgM Immunodeficiency Syndrome Immunoglobulin E Immunofluorescence Immunoglobulin D Immunodeficiency Syndrome Recurrence Immunopathology Internal Medicine medicine Pneumonia Bacterial Humans IgG Deficiency CD40 biology medicine.diagnostic_test business.industry IgA Deficiency Immunologic Deficiency Syndromes General Medicine Pedigree Immunoglobulin M Immunology biology.protein Antibody business |
| Zdroj: | Internal medicine (Tokyo, Japan). 34(7) |
| ISSN: | 0918-2918 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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