Pulmonary Manifestations of Other Well-Defined Immunodeficiencies

  • Man Amanat
  • Mona Salehi
  • Nima Rezaei


To date, various conditions with immunodeficiency accompanied by different systemic features have been classified as other well-defined primary immunodeficiencies (PIDs). Many aspects of these diseases remain unknown due to their rarity. Furthermore, in clinical care, it was pointed out that morbidities of disorders continued to be under-recognized and sometimes under-managed. Respiratory manifestations are common in PIDs including other well-defined ones. However, they remained underappreciated in literature, while they are one of the commonest causes of death among this population. Recurrent upper and lower respiratory tract infections as the result of immunodeficiency are the most frequent respiratory features in these diseases. By underestimating these infections, different complications such as bronchiectasis may occur which can lead to poorer prognosis and even early death of patients. Intravenous immunoglobulin (IVIg) therapy is now a good option in treatment and prevention of these infections. Also, stem cell transplant is a choice for long-term prevention due to repairing immune system. Other reported pathologic respiratory tract features in individuals with other well-defined PIDs include asthma and malignancies. Overall, in this chapter, we review different conditions in other well-defined PIDs which their respiratory manifestations were reported in literature.


Ataxia telangiectasia Nijmegen breakage syndrome Bloom syndrome Wolf-Hirschhorn syndrome Job’s syndrome Wiskott-Aldrich syndrome Netherton syndrome Dyskeratosis congenita 


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Man Amanat
    • 1
    • 2
  • Mona Salehi
    • 1
    • 2
  • Nima Rezaei
    • 3
    • 4
    • 5
  1. 1.NeuroImmunology Research Association (NIRA)Universal Scientific Education and Research Network (USERN)TehranIran
  2. 2.Students’ Scientific Research Center (SSRC)Tehran University of Medical Sciences (TUMS)TehranIran
  3. 3.Research Center for Immunodeficiencies, Children’s Medical CenterTehran University of Medical Sciences (TUMS)TehranIran
  4. 4.Department of ImmunologySchool of Medicine, Tehran University of Medical Sciences (TUMS)TehranIran
  5. 5.Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA)Universal Scientific Education and Research Network (USERN)TehranIran

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