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Article

CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization.

European journal of immunology - 1 Jan 1999

de Saint Basile G, Tabone M D, Durandy A, Phan F, Fischer A, Le Deist F

Abstract excerpt

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...

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Identifiers

PMID: 9933119
DOI: 10.1002/(SICI)1521-4141(199901)29:01<367::AID-IMMU367>3.0.CO;2-4

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