The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.

@article{Winkelstein2003TheXH,
  title={The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients.},
  author={Jerry A. Winkelstein and Mary C Marino and Hans Ochs and Ramsey Fuleihan and Paul R. Scholl and Raif Geha and E. Richard Stiehm and Mary Ellen Conley},
  journal={Medicine},
  year={2003},
  volume={82 6},
  pages={373-84}
}
The X-linked hyper-IgM (XHIGM) syndrome is an uncommon primary immunodeficiency disease caused by mutations in the gene for CD40 ligand and characterized by normal or elevated serum IgM, reduced levels of IgG and IgA, and defective T-cell function. Because of its rarity, it has been difficult for any single investigator or institution to develop a comprehensive clinical picture of this disorder. Accordingly, a national registry was developed in the United States to provide demographic, genetic… CONTINUE READING
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