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In CVID, an aberrant pattern of Ig class switch recombination (CSR) results in markedly reduced production of IgG, IgA, and IgM. This manifests as a clinical picture of recurrent bacterial infections. The underlying mechanism of decreased Ig production is unknown. We describe a case of a patient who demonstrated clinical signs consistent with CVID. Our patient demonstrated a unique IgG3 subclass deficiency and the cloning and sequencing of the patient's CD40 ligand (CD40L) gene revealed a point mutation in the initiation codon. To our knowledge this is the first case of a point mutation in the CD40L gene in a patient with CVID. Our results suggest that a novel mutation in the CD40L gene might be responsible for the decreased Ig 0b46394aab
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