Hypogammaglobulinaemia in a patient with ring chromosome 21

Shouichi Ohga, Futoshi Nakao, Osamu Narazaki, Naoki Fusazaki, Tomonobu Aoki, Kenji Kamesaki, Toshiro Hara

研究成果: Contribution to journalArticle査読

9 被引用数 (Scopus)

抄録

An 8 year old boy with ring chromosome 21 who was susceptible to sinorespiratory infections due to hypogammaglobulinaemia is reported. He presented with the characteristic features of monosomy 21 syndrome, such as psychomotor retardation, hypertonia, large saccular ears, prominent nasal bridge, micrognathia, thrombocytopenia, and patent ductus arteriosus. His serum IgG concentration was less than 1.5 g/l at 3 years and 6 months of age after repeated hospitalisations with pneumonia, otitis media, and convulsions. Regular replacement of intravenous gammaglobulin effectively reduced such infectious episodes. A predisposition to infection in patients with ring chromosome 21 may be explained by hypogammaglobulinaemia and merit treatment with gammaglobulin.

本文言語英語
ページ(範囲)252-254
ページ数3
ジャーナルArchives of Disease in Childhood
77
3
DOI
出版ステータス出版済み - 1997

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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