These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization.
    Author: de Saint Basile G, Tabone MD, Durandy A, Phan F, Fischer A, Le Deist F.
    Journal: Eur J Immunol; 1999 Jan; 29(1):367-73. PubMed ID: 9933119.
    Abstract:
    We report on the case of a girl with an immune deficiency characterized by recurrent infections of the upper and lower respiratory tract, low IgG and IgA serum levels as well as deficiency of the in vivo antibody response. Since this patient is the sister of a boy affected with a hyper-IgM syndrome due to a defect in CD40 ligand (CD40L) expression, the involvement of CD40L in this phenotypic expression was investigated. A very low fraction of activated T cells (5%) in this female patient expressed CD40L. This resulted from the presence of a heterozygous CD40L nonsense mutation associated with a skewed pattern of X chromosome inactivation as determined by methylation pattern analysis. Although carriers of X-linked hyper-IgM are considered to be asymptomatic, this study indicates that extreme lyonization of the normal X can lead to a mild expression of the hyper-IgM syndrome which is similar to common variable immune deficiency (CVID). Therefore, it is possible that some cases of CVID in females represent partial deficiency of CD40L expression in carriers of the CD40L mutation.
    [Abstract] [Full Text] [Related] [New Search]