Publication at First Faculty of Medicine |
2005
Abstract
Hyper-IgM syndrome is a very interesting group of diseases, which have in common a class-switch defect of produced antibodies. The study of specific defects underlying different types of hyper-IgM syndrome allowed development of knowledge about class-switch and somatic hypermutation principles.
Despite the tremendous advance in enlightening the molecular genetic basis of the defects, white areas still remain. The authors present an overview of latest knowledge together with a case-study of the single patient with X-linked hyper-IgM syndrome in the care of their department.