Immunology

The relevance of primary immunodeficiency registries on a global perspective



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Key words

Primary immunodeficiencies or inborn errors of immunity (IEIs), are a group of more than 400 monogenic diseases that present with recurrent infections, immune dysregulation, atopic disorders, autoinflammation, and susceptibility to cancer or in association with complex syndromes. The estimated overall incidence of these diseases is 1:10,000, but it varies worldwide depending on genetic background, environmental factors, social habits, and access to health services.

  • Costa-Carvalho B.T.
  • Grumach A.S.
  • Franco J.L.
  • Espinosa-Rosales F.J.
  • Leiva L.E.
  • King A.
  • et al.
Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice.