Abstract
A 13-year-old boy with immunodeficiency with hyper-IgM was analyzed for mutations in the CD40L gene. An insertional mutation of an extra T in a run of four T's was found in the second exon of the gene, leading to a premature translation stop. Genetic counselling of the family was performed, based on mutation detection by PCR/oligohybridization.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Base Sequence
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CD40 Antigens*
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CD40 Ligand
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DNA
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Female
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Genetic Counseling*
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Humans
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Hypergammaglobulinemia / complications
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Hypergammaglobulinemia / genetics*
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Immunoglobulin M*
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Immunologic Deficiency Syndromes / complications
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Immunologic Deficiency Syndromes / genetics*
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Male
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Membrane Glycoproteins / genetics*
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Molecular Sequence Data
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Mutagenesis, Insertional*
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Open Reading Frames
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Pedigree
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X Chromosome
Substances
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CD40 Antigens
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Immunoglobulin M
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Membrane Glycoproteins
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CD40 Ligand
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DNA