Abstract
X-linked hyper IgM syndrome is largely caused by defects in the CD40L (CD154). The patients have low levels of IgG and have difficulty with respiratory infections as well as opportunistic infections. The morbidity of this syndrome is high; however, early diagnosis and therapy should reduce morbidity and mortality.
MeSH terms
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Adolescent
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CD40 Antigens / metabolism
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CD40 Ligand / metabolism
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Child
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Female
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Genetic Carrier Screening
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Humans
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Hypergammaglobulinemia* / etiology
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Hypergammaglobulinemia* / genetics
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Hypergammaglobulinemia* / immunology
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Immunoglobulin M*
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Male
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X Chromosome*
Substances
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CD40 Antigens
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Immunoglobulin M
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CD40 Ligand