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Book cover Pulmonary Manifestations of Primary Immunodeficiency Diseases

Abstract

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.)

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References

  1. Armstrong J, Gluck EH, Crapo RO, Jones HA, Hughes JM. Lung tissue volume estimated by simultaneous radiographic and helium dilution methods. Thorax. 1982;37(9):676–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Borges I, Sena I, Azevedo P, Andreotti J, Almeida V, Paiva A, et al. Lung as a niche for hematopoietic progenitors. Stem Cell Rev. 2017;13(5):567–74.

    Article  PubMed Central  Google Scholar 

  3. Mercer RR, Russell ML, Roggli VL, Crapo JD. Cell number and distribution in human and rat airways. Am J Respir Cell Mol Biol. 1994;10(6):613–24.

    Article  CAS  PubMed  Google Scholar 

  4. Mason RJ, Dobbs LG. Alveolar epithelium and pulmonary surfactant. Murray and Nadel’s textbook of respiratory medicine. 6th ed. Philadelphia: Elsevier; 2016. p. 134–49. e5.

    Google Scholar 

  5. Netea MG, Balkwill F, Chonchol M, Cominelli F, Donath MY, Giamarellos-Bourboulis EJA-O, et al. A guiding map for inflammation. Nat Immunol. 2017;18(8):826.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Picard C, Gaspar HB, Al-Herz W, Bousfiha A, Casanova J-L, Chatila T, et al. International union of immunological societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol. 2018;38(1):96–128.

    Article  PubMed  Google Scholar 

  7. Kaustio M, Haapaniemi E, Goos H, Hautala T, Park G, Syrjanen J, et al. Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes. J Allergy Clin Immunol. 2017;140(3):782–96.

    Article  CAS  PubMed  Google Scholar 

  8. Bousfiha A, Jeddane L, Picard C, Ailal F, Gaspar HB, Al-Herz W, et al. The 2017 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol. 2018;38(1):129–43.

    Article  PubMed  Google Scholar 

  9. Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, et al. Transplantation outcomes for severe combined immunodeficiency, 2000–2009. N Engl J Med. 2014;271(5):434–46.

    Article  CAS  Google Scholar 

  10. Joshi AY, Iyer VN, Hagan JB, St Sauver JL, Boyce TG. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc. 2009;84(1):16–22.

    Article  PubMed  PubMed Central  Google Scholar 

  11. Ludviksson BR, Sigurdardottir ST, Johannsson JH, Haraldsson A, Hardarson TO. Epidemiology of Primary Immunodeficiency in Iceland. J Clin Immunol. 2015;35(1):75–9.

    Article  PubMed  Google Scholar 

  12. The U.S. Immunodeficiency Network (USIDNET), a program of the Immune Deficiency Foundation (IDF), is supported by a cooperative agreement, U24AI86837, from the National Institute of Allergy and Infectious Diseases (NIAID). https://usidnet.org/registry-data/.

  13. Al-Mousa H, Al-Saud B. Primary immunodeficiency diseases in highly consanguineous populations from Middle East and North Africa: epidemiology, diagnosis, and care. Front Immunol. 2017;8:678.

    Article  PubMed  PubMed Central  Google Scholar 

  14. Immunodeficiencies ESf. Registry Working Party ESID Database Statistics; Update June 19, 2018. 2018. https://esid.org/Working-Parties/Registry-Working-Party/ESID-Database-Statistics.

  15. Leiva LE, Zelazco M, Oleastro M, Carneiro-Sampaio M, Condino-Neto A, Costa-Carvalho BT, Grumach AS, et al. Primary immunodeficiency diseases in Latin America: the second report of the LAGID registry. J Clin Immunol. 2007;27(1):101–8.

    Article  PubMed  Google Scholar 

  16. Modell V, Quinn J, Orange J, Notarangelo LD, Modell F. Primary immunodeficiencies worldwide: an updated overview from the Jeffrey Modell Centers Global Network. Immunol Res. 2016;64(3):736–53.

    Article  PubMed  Google Scholar 

  17. Trotta L, Hautala T, Hamalainen S, Syrjanen J, Viskari H, Almusa H, et al. Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland. Eur J Hum Genet. 2016;24(10):1473.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  18. Selenius JS, Martelius T, Pikkarainen S, Siitonen S, Mattila E, Pietikäinen R, et al. Unexpectedly high prevalence of common variable immunodeficiency in Finland. Front Immunol. 2017;8:1190.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  19. Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, et al. Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol. 2009;124(6):1152–60.

    Article  PubMed  PubMed Central  Google Scholar 

  20. Gennery AR, Holland SM. Primary immunodeficiencies: not just paediatric diseases. Eur Respir J. 2015;45:1521–3.

    Article  PubMed  Google Scholar 

  21. Gathmann B, Mahlaoui N, Gerard L, Oksenhendler E, Warnatz K, Schulze I, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014;134(1):116–26.

    Article  PubMed  Google Scholar 

  22. Lucas M, Lee M, Lortan J, Lopez-Granados E, Misbah S, Chapel H. Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22 years. J Allergy Clin Immunol. 2010;125(6):1354–60.

    Article  CAS  PubMed  Google Scholar 

  23. Netea MG, van der Meer JW. Trained immunity: an ancient way of remembering. Cell Host Microbe. 2017;21(3):297–300.

    Article  CAS  PubMed  Google Scholar 

  24. Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency: a new paradigm is needed for the twenty-first century. Ann N Y Acad Sci. 2011;1238(1):7–14.

    Article  PubMed  Google Scholar 

  25. Al-Herz W, Aldhekri H, Barbouche MR, Rezaei N. Consanguinity and primary immunodeficiencies. Hum Hered. 2014;77(1–4):138–43.

    Article  CAS  PubMed  Google Scholar 

  26. Wood P, Network UPI. Primary antibody deficiencies: recognition, clinical diagnosis and referral of patients. Clin Med (Lond). 2009;9(6):595–9.

    Article  Google Scholar 

  27. Arnold DF, Wiggins J, Cunningham-Rundles C, Misbah SA, Chapel HM. Granulomatous disease: distinguishing primary antibody disease from sarcoidosis. Clin Immunol. 2008;128(1):18.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Verbsky JW, Routes JM, editors. Sarcoidosis and common variable immunodeficiency: similarities and differences. Seminars in respiratory and critical care medicine. Stuttgart: Thieme Medical Publishers; 2014.

    Google Scholar 

  29. Juhn YJ. Risks for infection in patients with asthma (or other atopic conditions): is asthma more than a chronic airway disease? J Allergy Clin Immunol. 2014;134(2):247–57.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Jung JA, Kita H, Yawn BP, Boyce TG, Yoo KH, McGree ME, Weaver AL, et al. Increased risk of serious pneumococcal disease in patients with atopic conditions other than asthma. J Allergy Clin Immunol. 2010;125(1):217–21.

    Article  CAS  PubMed  Google Scholar 

  31. Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR, et al. Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. J Allergy Clin Immunol. 2014;133(4):1092–8.

    Article  PubMed  Google Scholar 

  32. Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai S-Y, et al. Primary immune deficiency treatment consortium (PIDTC) report. J Allergy Clin Immunol. 2014;133(2):335–47. e11.

    Article  PubMed  Google Scholar 

  33. McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, et al. Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. J Allergy Clin Immunol. 2015;136(5):1268–76.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  34. Luk ADW, Lee PP, Mao H, Chan K-W, Chen XY, Chen T-X, et al. Family history of early infant Death correlates with earlier age at Diagnosis But not shorter Time to Diagnosis for severe combined immunodeficiency. Front Immunol. 2017;8:808.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  35. Nelson KS, Lewis DB. Adult-onset presentations of genetic immunodeficiencies: genes can throw slow curves. Curr Opin Infect Dis. 2010;23(4):359.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  36. Woroniecka M, Ballow M. Office evaluation of children with recurrent infection. Pediatr Clin N Am. 2000;47(6):1211–24.

    Article  CAS  Google Scholar 

  37. Immunology EAoAaC. European position paper on rhinosinusitis and nasal polyps. Rhinol Suppl. 2005;18:1–87.

    Google Scholar 

  38. Wood P, Peckham D. Investigating recurrent respiratory infections in primary care. BMJ (CR)-print. 2009;339(2):b4118.

    Article  PubMed  Google Scholar 

  39. Gokturk B, Keles S, Kirac M, Artac H, Tokgoz H, Guner S, et al. CD3G gene defects in familial autoimmune thyroiditis. Scand J Immunol. 2014;80(5):354–61.

    Article  CAS  PubMed  Google Scholar 

  40. von Bernuth H, Picard C, Puel A, Casanova JL. Experimental and natural infections in M y D 88-and IRAK-4-deficient mice and humans. Eur J Immunol. 2012;42(12):3126–35.

    Article  CAS  Google Scholar 

  41. Yalçın E, Doğru D, Özçelik U, Kiper N, Aslan AT, Gözaçan A. Tracheomalacia and bronchomalacia in 34 children: clinical and radiologic profiles and associations with other diseases. Clin Pediatr. 2005;44(9):777–81.

    Article  Google Scholar 

  42. Einarsdottir H, Erlendsdottir H, Kristinsson K, Gottfredsson M. Nationwide study of recurrent invasive pneumococcal infections in a population with a low prevalence of human immunodeficiency virus infection. Clin Microbiol Infect. 2005;11(9):744–9.

    Article  CAS  PubMed  Google Scholar 

  43. Gaschignard J, Levy C, Chrabieh M, Boisson B, Bost-Bru C, Dauger S, et al. Invasive pneumococcal disease in children can reveal a primary immunodeficiency. Clin Infect Dis. 2014;59(2):244–51.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  44. Netea MG, van der Meer JW. Immunodeficiency and genetic defects of pattern-recognition receptors. N Engl J Med. 2011;364(1):60–70.

    Article  CAS  PubMed  Google Scholar 

  45. Chan ED, Iseman MD. Bronchiectasis. In: Broaddus VC, Ernst JD, Gotway MB, King TE, Lazarus SC, Mason RJ, et al., editors. Murray and Nadel’s textbook of respiratory medicine. 6th ed. Philadelphia: Elsevier - Health Sciences Division; 2016. p. 853–76.

    Google Scholar 

  46. Jesenak M, Banovcin P, Jesenakova B, Babusikova E. Pulmonary manifestations of primary immunodeficiency disorders in children. Front Pediatr. 2014;2:77.

    Article  PubMed  PubMed Central  Google Scholar 

  47. Truong T. The overlap of bronchiectasis and immunodeficiency with asthma. Immunol Allergy Clin North Am. 2013;33(1):61–78.

    Article  PubMed  Google Scholar 

  48. Yazdani R, Abolhassani H, Asgardoon M, Shaghaghi M, Modaresi M, Azizi G, et al. Infectious and noninfectious pulmonary complications in patients with primary immunodeficiency disorders. J Investig Allergol Clin Immunol. 2017;27(4):213–24.

    Article  CAS  PubMed  Google Scholar 

  49. McShane PJ, Naureckas ET, Tino G, Strek ME. Non–cystic fibrosis bronchiectasis. Am J Respir Crit Care Med. 2013;188(6):647–56.

    Article  PubMed  Google Scholar 

  50. Agondi R, Barros M, Rizzo L, Kalil J, Giavina-Bianchi P. Allergic asthma in patients with common variable immunodeficiency. Allergy. 2010;65(4):510–5.

    Article  CAS  PubMed  Google Scholar 

  51. Knutsen AP, Bush RK, Demain JG, Denning DW, Dixit A, Fairs A, et al. Fungi and allergic lower respiratory tract diseases. J Allergy Clin Immunol. 2012;129(2):280–91.

    Article  PubMed  Google Scholar 

  52. Muldoon EG, Strek ME, Patterson KC. Allergic and noninvasive infectious pulmonary aspergillosis syndromes. Clin Chest Med. 2017;38(3):521–34.

    Article  PubMed  Google Scholar 

  53. Denning DW, Chakrabarti A. Pulmonary and sinus fungal diseases in non-immunocompromised patients. Lancet Infect Dis. 2017;17(11):e357–66.

    Article  PubMed  Google Scholar 

  54. Owayed A, Al-Herz W. Sinopulmonary complications in subjects with primary immunodeficiency. Respir Care. 2016. https://doi.org/10.4187/respcare.04479.

    Article  PubMed  Google Scholar 

  55. Rezaei N, de Vrie E, Gambineri E, Haddad E. Common presentations and diagnostic approaches. In: Sullivan K, Stiehm ER, editors. Stiehm’s immune deficiencies. 1st ed. Amsterdam: Academic Press; 2014. p. 3–59.

    Chapter  Google Scholar 

  56. Szymanski EP, Leung JM, Fowler CJ, Haney C, Hsu AP, Chen F, et al. Pulmonary nontuberculous mycobacterial infection. A multisystem, multigenic disease. Am J Respir Crit Care Med. 2015;192(5):618–28.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  57. Aksamit TR, O’donnell AE, Barker A, Olivier KN, Winthrop KL, Daniels MLA, et al. Adult patients with bronchiectasis: a first look at the US bronchiectasis research registry. Chest. 2017;151(5):982–92.

    Article  PubMed  Google Scholar 

  58. Nonas S. Pulmonary manifestations of primary immunodeficiency disorders. Immunol Allergy Clin North Am. 2015;35(4):753–66.

    Article  PubMed  Google Scholar 

  59. Freeman AF, Olivier KN. Hyper-IgE syndromes and the lung. Clin Chest Med. 2016;37(3):557–67.

    Article  PubMed  PubMed Central  Google Scholar 

  60. Wood P, Stanworth S, Burton J, Jones A, Peckham D, Green T, et al. Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review. Clin Exp Immunol. 2007;149(3):410–23.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  61. Pasteur MC, Bilton D, Hill AT. British Thoracic Society guideline for non-CF bronchiectasis. Thorax. 2010;65(Suppl 1):i1–i58.

    Article  PubMed  Google Scholar 

  62. Schussler E, Beasley MB, Maglione PJ. Lung disease in primary antibody deficiencies. J Allergy Clin Immunol Pract. 2016;4(6):1039–52.

    Article  PubMed  PubMed Central  Google Scholar 

  63. Sobh A, Bonilla FA. Vaccination in primary immunodeficiency disorders. J Allergy Clin Immunol Pract. 2016;4(6):1066–75.

    Article  PubMed  Google Scholar 

  64. Shearer WT, Fleisher TA, Buckley RH, Ballas Z, Ballow M, Blaese RM, et al. Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts. J Allergy Clin Immunol. 2014;133(4):961–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  65. Kroger A, Duchin J, Vázquez M. Best practices guidance of the Advisory Committee on Immunization Practices (ACIP). Atlanta, GA: US Department of Health and Human Services, CDC; 2017.

    Google Scholar 

  66. Bates CA, Ellison MC, Lynch DA, Cool CD, Brown KK, Routes JM. Granulomatous-lymphocytic lung disease shortens survival in common variable immunodeficiency. J Allergy Clin Immunol. 2004;114(2):415–21.

    Article  PubMed  Google Scholar 

  67. Wheat WH, Cool CD, Morimoto Y, Rai PR, Kirkpatrick CH, Lindenbaum BA, et al. Possible role of human herpesvirus 8 in the lymphoproliferative disorders in common variable immunodeficiency. J Exp Med. 2005;202(4):479–84.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  68. van Moorsel CH, ten Klooster L, van Oosterhout MF, de Jong PA, Adams H, Wouter van Es H, et al. SFTPA2 mutations in familial and sporadic idiopathic interstitial pneumonia. Am J Respir Crit Care Med. 2015;192(10):1249–52.

    Article  PubMed  CAS  Google Scholar 

  69. Verma N, Grimbacher B, Hurst JR. Lung disease in primary antibody deficiency. Lancet Respir Med. 2015;3(8):651–60.

    Article  PubMed  Google Scholar 

  70. Hurst JR, Verma N, Lowe D, Baxendale HE, Jolles S, Kelleher P, et al. British Lung Foundation/United Kingdom primary immunodeficiency network consensus statement on the definition, diagnosis, and management of granulomatous-lymphocytic interstitial lung disease in common variable immunodeficiency disorders. J Allergy Clin Immunol Pract. 2017;5(4):938–45.

    Article  PubMed  Google Scholar 

  71. Becker ML, Martin TM, Doyle TM, Rosé CD. Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. Arthritis Rheum. 2007;56(4):1292–4.

    Article  CAS  PubMed  Google Scholar 

  72. Bodemer C, Sauvage V, Mahlaoui N, Cheval J, Couderc T, Leclerc-Mercier S, et al. Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency. Clin Microbiol Infect. 2014;20(10):O656–O63.

    Article  CAS  PubMed  Google Scholar 

  73. Perelygina L, Plotkin S, Russo P, Hautala T, Bonilla F, Ochs HD, et al. Rubella persistence in epidermal keratinocytes and granuloma M2 macrophages in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2016;138(5):1436–9. e11.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  74. Gadola S, Moins-Teisserenc H, Trowsdale J, Gross W, Cerundolo V. TAP deficiency syndrome: IMMUNODEFICIENCY REVIEW. Clin Exp Immunol. 2000;121(2):173–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  75. Rao N, Mackinnon AC, Routes JM. Granulomatous and lymphocytic interstitial lung disease: a spectrum of pulmonary histopathologic lesions in common variable immunodeficiency—histologic and immunohistochemical analyses of 16 cases. Hum Pathol. 2015;46(9):1306–14.

    Article  PubMed  PubMed Central  Google Scholar 

  76. Allenspach E, Torgerson TR. Autoimmunity and primary immunodeficiency disorders. J Clin Immunol. 2016;36(1):57–67.

    Article  CAS  PubMed  Google Scholar 

  77. Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002;46(12):3340–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  78. Kaufman J, Komorowski R. Bronchiolitis obliterans organizing pneumonia in common variable immunodeficiency syndrome. Chest. 1991;100(2):552–3.

    Article  CAS  PubMed  Google Scholar 

  79. Shokri S, Nabavi M, Hirschmugl T, Aghamohammadi A, Arshi S, Bemanian MH, et al. LPS-responsive beige-like anchor gene mutation associated with possible Bronchiolitis Obliterans organizing pneumonia associated with Hypogammaglobulinemia and normal IgM phenotype and low number of B cells. Acta Med Iran. 2016;54(10):620–3.

    PubMed  Google Scholar 

  80. Tamada T, Nara M, Tomaki M, Ashino Y, Hattori T. Secondary bronchiolitis obliterans organising pneumonia in a patient with carbamazepine-induced hypogammaglobulinemia. Thorax. 2007;62(1):100.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  81. Pohl W, Armbruster C, Bernhardt K, Drlicek M, Vetter N. Idiopathic CD4+ T-lymphocytopenia in 2 patients without indications for HIV infection. Wien Klin Wochenschr. 1995;107(3):95–100.

    CAS  PubMed  Google Scholar 

  82. Mason RJ, Dobbs LG. Alveolar epithelium and pulmonary surfactant. In: Broaddus VC, Ernst JD, Gotway MB, King TE, Lazarus SC, Mason RJ, et al., editors. Murray and Nadel’s textbook of respiratory medicine. 6th ed; 2016. p. 134–49.

    Chapter  Google Scholar 

  83. Haapaniemi EM, Kaustio M, Rajala HL, van Adrichem AJ, Kainulainen L, Glumoff V, et al. Autoimmunity, hypogammaglobulinemia, lymphoproliferation and mycobacterial disease in patients with dominant activating mutations in STAT3. Blood. 2014. https://doi.org/10.1182/blood-2014-04-570101.

    Article  PubMed  CAS  Google Scholar 

  84. Snetselaar R, Van Moorsel CH, Kazemier KM, Van Der Vis JJ, Zanen P, Van Oosterhout MF, et al. Telomere length in interstitial lung diseases. Chest. 2015;148(4):1011–8.

    Article  PubMed  Google Scholar 

  85. Newton CA, Batra K, Torrealba J, Kozlitina J, Glazer CS, Aravena C, et al. Telomere-related lung fibrosis is diagnostically heterogeneous but uniformly progressive. Eur Respir J. 2016;48(6):1710–20.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  86. Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2013;6(3):327–37.

    Article  CAS  PubMed  Google Scholar 

  87. Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, et al. Clinical and molecular heterogeneity of RTEL1 deficiency. Front Immunol. 2017;8:449.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  88. Petrovski S, Todd JL, Durheim MT, Wang Q, Chien JW, Kelly FL, et al. An exome sequencing study to assess the role of rare genetic variation in pulmonary fibrosis. Am J Respir Crit Care Med. 2017;196(1):82–93.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  89. Stella GM, Balestro E, Lacedonia D, Baraldo S. Telomeropathies: an emerging spectrum of disorders with important implications for patients with interstitial lung disease. Minerva Med. 2016;107(1 Suppl 1):9–14.

    PubMed  Google Scholar 

  90. Haycock PC, Burgess S, Nounu A, Zheng J, Okoli GN, Bowden J, et al. Association between telomere length and risk of cancer and non-neoplastic diseases: a Mendelian randomization study. JAMA Oncol. 2017;3(5):636–51.

    Article  PubMed  Google Scholar 

  91. Bhatt JM, Bush A, van Gerven M, Nissenkorn A, Renke M, Yarlett L, et al. Ataxia telangiectasia: why should the ERS care? Eur Respir J. 2015;46(6):1557–60.

    Article  CAS  PubMed  Google Scholar 

  92. Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J. Pulmonary fibrosis in Hermansky–Pudlak syndrome. Ann Am Thorac Soc. 2016;13(10):1839–46.

    PubMed  PubMed Central  Google Scholar 

  93. Somech R, Somers GR, Chitayat D, Grunebaum E, Atkinson A, Kolomietz E, et al. Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters—a new syndrome. Am J Med Genet A. 2008;146(1):8–14.

    Article  Google Scholar 

  94. Ballerie A, Nimubona S, Meunier C, Gutierrez FL, Desrues B, Delaval P, et al. Association of pulmonary alveolar proteinosis and fibrosis: patient with GATA2 deficiency. Eur Respir J. 2016. https://doi.org/10.1183/13993003.00252-2016.

    Article  CAS  PubMed  Google Scholar 

  95. Siddiqui S, Anderson VL, Hilligoss DM, Abinun M, Kuijpers TW, Masur H, et al. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin Infect Dis. 2007;45(6):673–81.

    Article  CAS  PubMed  Google Scholar 

  96. Lohr NJ, Molleston JP, Strauss KA, Torres-Martinez W, Sherman EA, Squires RH, et al. Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease. Am J Hum Genet. 2010;86(3):447–53.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  97. Trapnell BC, Luisetti M. Pulmonary alveolar proteinosis syndrome. In: Broaddus VC, Ernst JD, Gotway MB, King TE, Lazarus SC, Mason RJ, et al., editors. Nadel’s textbook of respiratory medicine. 6th ed; 2015. p. 1260–74.

    Google Scholar 

  98. Ito M, Nakagome K, Ohta H, Akasaka K, Uchida Y, Hashimoto A, et al. Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile. BMC pulmonary medicine. 2017;17(1):40.

    Article  PubMed  PubMed Central  Google Scholar 

  99. Hsu AP, McReynolds LJ, Holland SM. GATA2 deficiency. Curr Opin Allergy Clin Immunol. 2015;15(1):104.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  100. Imielinski M, Guo G, Meyerson M. Insertions and deletions target lineage-defining genes in human cancers. Cell. 2017;168(3):460–72. e14.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  101. Mayor PC, Eng KH, Singel KL, Abrams SI, Odunsi K, Moysich KB, et al. Cancer in primary immunodeficiency diseases: cancer incidence in the United States immune deficiency network registry. J Allergy Clin Immunol. 2018;141(3):1028–35.

    Article  PubMed  Google Scholar 

  102. Mortaz E, Tabarsi P, Mansouri D, Khosravi A, Garssen J, Velayati A, et al. Cancers related to immunodeficiencies: update and perspectives. Front Immunol. 2016;7:365.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  103. Hauck F, Voss R, Urban C, Seidel MG. Intrinsic and extrinsic causes of malignancies in patients with primary immunodeficiency disorders. J Allergy Clin Immunol. 2018;141(1):59–68. e4.

    Article  PubMed  Google Scholar 

  104. Milito C, Pulvirenti F, Serra G, Valente M, Pesce AM, Granata G, et al. Lung magnetic resonance imaging with diffusion weighted imaging provides regional structural as well as functional information without radiation exposure in primary antibody deficiencies. J Clin Immunol. 2015;35(5):491–500.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  105. Serra G, Milito C, Mitrevski M, Granata G, Martini H, Pesce AM, et al. Lung MRI as a possible alternative to CT scan for patients with primary immune deficiencies and increased radiosensitivity. Chest. 2011;140(6):1581–9.

    Article  PubMed  Google Scholar 

  106. Attarbaschi A, Carraro E, Abla O, Barzilai-Birenboim S, Bomken S, Brugieres L, et al. Non-Hodgkin’s lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents. Haematologica. 2016. https://doi.org/10.3324/haematol.2016.147116.

    Article  PubMed  PubMed Central  Google Scholar 

  107. Vece TJ, Watkin LB, Nicholas SK, Canter D, Braun MC, Guillerman RP, et al. Copa syndrome: a novel autosomal dominant immune dysregulatory disease. J Clin Immunol. 2016;36(4):377–87.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  108. Johnston S, Hill S, Lock R, Dwight J, Unsworth D, Gompels M. Echocardiographic abnormalities in primary antibody deficiency. Postgrad Med J. 2004;80(942):214–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  109. Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2013. https://doi.org/10.1182/blood-2013-07-515528.

    Article  PubMed  CAS  Google Scholar 

  110. Rossoff LJ, Genovese J, Coleman M, Dantzker DR. Primary pulmonary hypertension in a patient with CD8/T-cell large granulocyte leukemia: amelioration by cladribine therapy. Chest. 1997;112(2):551–3.

    Article  CAS  PubMed  Google Scholar 

  111. Grossi O, Horeau-Langlard D, Agard C, Haloun A, Lefebvre M, Neel A, et al. Low-dose methotrexate in PAH related to T-cell large granular lymphocyte leukaemia. Eur Respir J. 2012;39(2):493–4.

    Article  CAS  PubMed  Google Scholar 

  112. Jouneau S, Ballerie A. Haemodynamically proven pulmonary hypertension in a patient with GATA2 deficiency-associated pulmonary alveolar proteinosis and fibrosis. Eur Respir J. 2017;49(5).

    Article  PubMed  Google Scholar 

  113. Sanges S, Prévotat A, Fertin M, Terriou L, Lefèvre G, Quesnel B, et al. Haemodynamically proven pulmonary hypertension in a patient with GATA2 deficiency-associated pulmonary alveolar proteinosis and fibrosis. Eur Respir J. 2017;49(5):1700178.

    Article  PubMed  CAS  Google Scholar 

  114. Niemela J, Kuehn HS, Kelly C, Zhang M, Davies J, Melendez J, et al. Caspase-8 deficiency presenting as late-onset multi-organ lymphocytic infiltration with granulomas in two adult siblings. J Clin Immunol. 2015;35(4):348–55.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  115. Griese M, Zarbock R, Costabel U, Hildebrandt J, Theegarten D, Albert M, et al. GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders. BMC Pulm Med. 2015;15(1):87.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  116. Jouhadi Z, Khadir K, Ailal F, Bouayad K, Nadifi S, Engelhardt KR, et al. Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus. Pediatrics. 2014. https://doi.org/10.1542/peds.2013-1383.

    Article  PubMed  Google Scholar 

  117. Meyts I, Bosch B, Bolze A, Boisson B, Itan Y, Belkadi A, et al. Exome and genome sequencing for inborn errors of immunity. J Allergy Clin Immunol. 2016;138(4):957–69.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  118. Ho SW, Teng YH, Yang SF, Yeh HW, Wang YH, Chou MC, et al. Association of proton pump inhibitors usage with risk of pneumonia in dementia patients. J Am Geriatr Soc. 2017;65(7):1441–7.

    Article  PubMed  Google Scholar 

  119. Gelfand EW, Ochs HD, Shearer WT. Controversies in IgG replacement therapy in patients with antibody deficiency diseases. J Allergy Clin Immunol. 2013;131(4):1001–5.

    Article  CAS  PubMed  Google Scholar 

  120. Kishiyama J, Valacer D, Cunningham-Rundles C, Sperber K, Richmond G, Abramson S, et al. A multicenter, randomized, double-blind, placebo-controlled trial of high-dose intravenous immunoglobulin for oral corticosteroid-dependent asthma. Clin Immunol. 1999;91(2):126–33.

    Article  CAS  PubMed  Google Scholar 

  121. Borgers H, Jeurissen A, Flamaing J, Peetermans W, Moens L, Verhaegen J, et al. Elderly subjects do not show impaired pneumococcal capsular polysaccharide serotype-specific antibody responses as assessed by a multiplexed bead assay. Clin Immunol. 2010;135(3):501–2.

    Article  CAS  PubMed  Google Scholar 

  122. Borgers H, Moens L, Picard C, Jeurissen A, Raes M, Sauer K, et al. Laboratory diagnosis of specific antibody deficiency to pneumococcal capsular polysaccharide antigens by multiplexed bead assay. Clin Immunol. 2010;134(2):198–205.

    Article  CAS  PubMed  Google Scholar 

  123. Cunningham-Rundles C. Key aspects for successful immunoglobulin therapy of primary immunodeficiencies. Clin Exp Immunol. 2011;164:16–9.

    Article  PubMed  PubMed Central  Google Scholar 

  124. Wirsum C, Glaser C, Gutenberger S, Keller B, Unger S, Voll RE, et al. Secondary antibody deficiency in glucocorticoid therapy clearly differs from primary antibody deficiency. J Clin Immunol. 2016;36(4):406–12.

    Article  CAS  PubMed  Google Scholar 

  125. Beck SC. Making sense of serotype-specific pneumococcal antibody measurements. London, England: SAGE Publications Sage UK; 2013.

    Book  Google Scholar 

  126. Schaballie H, Bosch B, Schrijvers R, Proesmans M, De Boeck K, Boon MN, et al. Fifth percentile cutoff values for antipneumococcal polysaccharide and anti-Salmonella typhi Vi IgG describe a normal polysaccharide response. Front Immunol. 2017;8:546.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  127. Jolles S, Sánchez-Ramón S, Quinti I, Soler-Palacín P, Agostini C, Florkin B, et al. Screening protocols to monitor respiratory status in primary immunodeficiency disease: findings from a European survey and subclinical infection working group. Clin Exp Immunol. 2017;190(2):226–34.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  128. Komarow HD, Sokolic R, Hershfield MS, Kohn DB, Young M, Metcalfe DD, et al. Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency. Orphanet J Rare Dis. 2015;10(1):159.

    Article  PubMed  PubMed Central  Google Scholar 

  129. Sullivan KE, Bassiri H, Bousfiha AA, Costa-Carvalho BT, Freeman AF, Hagin D, et al. Erratum to: emerging infections and pertinent infections related to travel for patients with primary immunodeficiencies. J Clin Immunol. 2017;37(7):693.

    Article  PubMed  PubMed Central  Google Scholar 

  130. Heimall J, Buckley RH, Puck J, Fleisher TA, Gennery AR, Haddad E, et al. Recommendations for screening and management of late effects in patients with severe combined immunodeficiency after allogenic hematopoietic cell transplantation: a consensus statement from the second Pediatric Blood and Marrow Transplant Consortium international conference on late effects after pediatric HCT. Biol Blood Marrow Transplant. 2017;23(8):1229–40.

    Article  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Rare Disease Center, New Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

    Mikko Seppänen

  2. Adult Primary Immunodeficiency Clinic, Inflammation Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

    Mikko Seppänen

  3. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

  4. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran

    Nima Rezaei

  5. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei

Authors
  1. Mikko Seppänen
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  2. Nima Rezaei
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Correspondence to Mikko Seppänen .

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Editors and Affiliations

  1. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran

    Seyed Alireza Mahdaviani

  2. Research Center for Immunodeficiencies Children’s Medical Center, Tehran University of Medical Sciences (TUMS), Tehran, Iran

    Nima Rezaei

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Seppänen, M., Rezaei, N. (2019). General Considerations. In: Mahdaviani, S., Rezaei, N. (eds) Pulmonary Manifestations of Primary Immunodeficiency Diseases . Springer, Cham. https://doi.org/10.1007/978-3-030-00880-2_1

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