General Considerations

  • Mikko SeppänenEmail author
  • Nima Rezaei


Many genetic and acquired immune-mediated diseases affect the human respiratory system. Currently, there are over 350 Primary Immunodeficiency Dieases (PIDs) known, most of which predispose individuals to airway and lung diseases. We first briefly review different categories of PIDs and why PIDs affect the lungs. We present common features in all PIDs as well as the associated airway infections suggesting the possibility of a PID. The risk of bronchiectasis and various inflammatory disorders of the lungs is increased in PID patients. We give general recommendations into how to diagnose PIDs and the associated lung complications in a patient with compatible features. We also discuss the differential diagnosis between local defects in the lungs and systemic PIDs, as well as the initial assessment and follow-up of lung functions in PID patients. We also emphasize the importance of collaboration between respiratory medicine specialists and clinical PID specialists.

(For further information you may see Rezaei N, Bonilla FA, Seppänen M, de Vries E, Bousfiha AA, Puck J. Introduction on primary immunodeficiency diseases. In: Rezaei N, Aghamohammadi A, Notarangelo LD, editors. Primary immunodeficiency diseases: definition, diagnosis, and management. 2nd ed. p. 1–82.)


Immune system diseases Immunologic deficiency syndromes, Immunoproliferative disorders Opportunistic infections Respiratory tract infections Bronchiectasis Granuloma, Respiratory tract Lung diseases, Interstitial Lung diseases, Fungal Pulmonary alveolar proteinosis Pulmonary fibrosis 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Rare Disease Center, New Children’s HospitalUniversity of Helsinki and Helsinki University HospitalHelsinkiFinland
  2. 2.Adult Primary Immunodeficiency Clinic, Inflammation CenterUniversity of Helsinki and Helsinki University HospitalHelsinkiFinland
  3. 3.Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical SciencesTehranIran
  4. 4.Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN)TehranIran
  5. 5.Department of Immunology, School of MedicineTehran University of Medical SciencesTehranIran

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