Abstract
We describe a patient with Rothmund-Thomson syndrome and IgG4 deficiency. In vitro examination of his peripheral mononuclear cells revealed impaired IgG4 synthesis. Susceptibility to sinus and pulmonary infections was cured by monthly immunoglobulin infusions.
MeSH terms
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Child, Preschool
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Humans
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IgG Deficiency / complications*
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IgG Deficiency / immunology
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Immunoglobulin G / biosynthesis
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Immunoglobulin G / blood
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Leukocytes, Mononuclear
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Male
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Rothmund-Thomson Syndrome / complications*
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Rothmund-Thomson Syndrome / immunology