Common variable immunodeficiency (CVID) is characterized by late-onset hypogammaglobulinemia in the absence of predisposing factors. The genetic cause is unknown in the majority of cases, and less ...
We here describe a patient with a phenotype which is a subset of the symptoms of the WWS/MEB spectrum. She has a heterozygous de novo deletion which includes the DAG1 gene. We discuss the implications ...
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