Copy number analysis in a large cohort suggestive of inborn errors of immunity indicates a wide spectrum of relevant chromosomal losses and gains

HIGHLIGHTS

• who: Rensheng Wan from the cohort was collected with a bias towards complex cases of antibody deficiency and immune dysregulation, initially selected to identify additional patients with Activated , Kinase Delta Syndrome (APDS)Clinical diagnoses were based on the European Society of Immunodeficiencies (ESID) criteria, and detailed longitudinal clinical symptom data was available for all patients [10]. We included , cases with common variable immunodeficiency (CVID) (76%) and , cases with varying immune-related conditions (Table, ). The age at diagnosis ranged fromtoyears. All patients or legal guardians provided written informed consent for further investigation into the genetic basis of the . . .
  

   

  

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