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Clinical and imaging considerations in primary immunodeficiency disorders: an update

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Abstract

Primary immunodeficiencies are a group of genetically determined disorders with diverse presentations. The purpose of this review is to provide a practical and brief description of a select number of these diseases and to discuss the important role the radiologist can have in making an early diagnosis and in detecting and following disease complications. The role of diagnostic imaging and informed performance and interpretation are vital in the diagnosis, surveillance and management of all primary immunodeficiency disorders.

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References

  1. Yin EZ, Frush DP, Donnelly LA et al (2001) Primary immunodeficiency disorders in pediatric patients: clinical features and imaging findings. AJR Am J Roentgenol 176:1541–1552

    Article  CAS  PubMed  Google Scholar 

  2. Ballow M (2002) Primary immunodeficiency disorders: antibody deficiency. J Allergy Clin Immunol 109:581–591

    Article  CAS  PubMed  Google Scholar 

  3. Fried AJ, Bonilla FA (2009) Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections. Clin Microbiol Rev 22:396–414

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Buckley RH, Orange JS (2014) Primary immunodeficiency diseases. In: Adkinson NF, Bochner BS, Burks AW et al (eds) Middleton’s allergy, principles and practice, 8th edn. Elsevier, Saunders, Philadelphia, pp 1144–1174

    Google Scholar 

  5. Wood P, Stanworth S, Burton J et al (2007) Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review. Clin Exp Immunol 149:410–423

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Curtin JJ, Webster AD, Farrant J et al (1991) Bronchiectasis in hypogammaglobulinaemia: computed tomography assessment. Clin Radiol 44:82–84

    Article  CAS  PubMed  Google Scholar 

  7. Hollingsworth CL (2005) Thoracic disorders in the immunocompromised child. Radiol Clin N Am 43:435–447

    Article  PubMed  Google Scholar 

  8. Buckley RH (2008) Primary immunodeficiency diseases. In: Paul WE (ed) Fundamental immunology, 6th edn. Lippencott-Raven Press, Philadelphia, pp 1523–1552

    Google Scholar 

  9. Johkoh T, Müller NL, Pickford HA et al (1999) Lymphocytic interstitial pneumonia: thin-section CT findings in 22 patients. Radiology 212:567–572

    Article  CAS  PubMed  Google Scholar 

  10. Rosen FS, Eibl M, Roifman C et al (1999) Primary immunodeficiency diseases report of an IUIS scientific committee. Clin Exp Immunol 118 (suppl 1):1–28

  11. Mellemkjaer L, Hammarstrom L, Anderson V et al (2002) Cancer risk among patients with IgA deficiency or common variable immunodeficiency and their relatives: a combined Danish and Swedish study. Clin Exp Immunol 130:495–500

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Filipovich AH, Mathur A, Kamat D et al (1994) Lymphoproliferative disorders and other tumors complicating immunodeficiencies. Immunodeficiency 5:91–112

    CAS  PubMed  Google Scholar 

  13. Brosens LA, Tytgat KM, Morsink FH et al (2008) Multiple colorectal neoplasms in X-linked agammaglobulinemia. Clin Gastroenterol Hepatol 6:115–119

    Article  PubMed  Google Scholar 

  14. Al-Herz W, Bousfiha A, Casanova JL et al (2014) Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 5:162

    PubMed  PubMed Central  Google Scholar 

  15. Buckley RH (2011) Transplantation of hematopoietic stem cells in human severe combined immunodeficiency: longterm outcomes. Immunol Res 49:25–43

    Article  PubMed  PubMed Central  Google Scholar 

  16. Pai SY, Logan B, Griffith LM et al (2014) Transplantation outcomes for severe combined immunodeficiency, 2000–2009. N Engl J Med 371:434–446

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  17. Hedlund GL, Griscom NT, Cleveland RH et al (1998) Respiratory system. In: Kirks DR (ed) Practical pediatric imaging. Lippincott-Raven, Philadelphia, pp 756–757

    Google Scholar 

  18. Kuhn JP, Slovis TL, Silverman FN et al (1993) The neck and respiratory system. In: Silverman FN, Kuhn JP (eds) Caffey’s pediatric x-ray diagnosis, 9th edn. CV Mosby, St. Louis, pp 563–566

    Google Scholar 

  19. Buckley RH, Schiff RI, Schiff SE et al (1997) Human severe combined immunodeficiency (SCID): genetic, phenotypic and functional diversity in 108 infants. J Pediatr 130:378–387

    Article  CAS  PubMed  Google Scholar 

  20. Griffith LM, Cowan MJ, Notarangelo LD et al (2009) Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol 124:1152–1160

    Article  PubMed  PubMed Central  Google Scholar 

  21. Gennery AR, Slatter MA, Grandin L et al (2010) Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol 126:602–610

    Article  PubMed  Google Scholar 

  22. Sarzotti-Kelsoe M, Win CM, Parrott RE et al (2009) Thymic output, T-cell diversity, and T-cell function in long-term human SCID chimeras. Blood 114:1145–1453

    Article  Google Scholar 

  23. Aiuti A, Cattaneo F, Galimberti S et al (2009) Gene therapy for immunodeficiency due to adensone deaminase deficiency. N Engl J Med 360:447–458

    Article  CAS  PubMed  Google Scholar 

  24. Hacein-Bay-Abina S, Garrigue A, Wang GP et al (2008) Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy for SCID-Xl. J Clin Invest 118:3132–3142

    Article  Google Scholar 

  25. Buckley RH (2012) The long quest for neonatal screening for SCID. J Allergy Clin Immunol 129:597–604

    Article  PubMed  PubMed Central  Google Scholar 

  26. IDF SCID newborn screening campaign. http://primaryimmune.org/idf-advocacy-center/idf-scid-newborn-screening-campaign/. Accessed 30 Jan 2016

  27. McDonald-McGinn AM, Sullivan KE (2011) Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine 90:1–18

    Article  PubMed  Google Scholar 

  28. Markert ML, Devlin BH, Alexieff MJ et al (2007) Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood 109:4539–4547

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Janda A, Selacek P, Hönig M et al (2010) Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly. Blood 116:2229–2236

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  30. Chinn IK, Markert ML (2011) Induction of tolerance to parathyroid grafts using allogeneic thymus tissue in patients with DiGeorge anomaly. J Allergy Clin Immunol 127:1351–1355

    Article  PubMed  PubMed Central  Google Scholar 

  31. Pai SY, Notarangelo LD (2010) Hematopoietic cell transplantation for Wiskott-Aldrich Syndrome: advances in biology and future directions for treatment. Immunol Allergy Clin N Am 30:179–194

    Article  Google Scholar 

  32. Davies EG (2009) Update on the management of immunodeficiency in ataxia-telangiectasia. Expert Rev Clin Immunol 5:565–575

    Article  CAS  PubMed  Google Scholar 

  33. Bordon V, Gennery AR, Slatter MA et al (2010) Clinical and immunologic outcomes of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. Blood 116:27–35

    Article  CAS  PubMed  Google Scholar 

  34. Farina L, Uggetti C, Ottolini A et al (1994) Ataxia-telangiectasia: MR and CT findings. J Comput Assist Tomogr 18:724–727

    Article  CAS  PubMed  Google Scholar 

  35. Ming JE, Stiehm ER, Graham JM (1996) Immunodeficiency as a component of recognizable syndromes. Am J Med Genet 66:178–198

    Article  Google Scholar 

  36. Mäkitie O, Perheentupa J, Kaitila I (1992) Growth in cartilage-hair hypoplasia. Pediatr Radiol 31:176–180

    Article  Google Scholar 

  37. Mackay IR, Rosen FS (2000) Immunodeficiency diseases caused by defects in phagocytes. N Engl J Med 343:1703–1714

    Article  Google Scholar 

  38. Etzioni A (2007) Leukocyte adhesion deficiencies: molecular basis, clinical findings, and therapeutic options. Adv Exp Med Biol 601:51–60

    Article  PubMed  Google Scholar 

  39. Greenberg DE, Shoffner AR, Zelazny AM et al (2010) Recurrent Granulibacter bethesdensis infections and chronic granulomatous disease. Emerg Infect Dis 16:1341–1348

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  40. Winkelstein JA, Marino MC, Johnston RB Jr et al (2000) Chronic granulomatous disease: report on a national registry of 368 patients. Medicine 79:155–169

    Article  CAS  PubMed  Google Scholar 

  41. Gold RH, Douglas SD, Peger L et al (1969) Roentgenographic features of the neutrophil dysfunction syndromes. Radiology 92:1045–1054

    Article  CAS  PubMed  Google Scholar 

  42. Chusid MJ, Sty JR, Wells RG (1998) Pulmonary aspergillosis appearing as chronic nodular disease in chronic granulomatous disease. Pediatr Radiol 18:232–234

    Article  Google Scholar 

  43. Renner WR, Johnson JF, Lichtenstein JE et al (1991) Esophageal inflammation and stricture: complication of chronic granulomatous disease of childhood. Radiology 178:189–191

    Article  CAS  PubMed  Google Scholar 

  44. Hiller N, Fisher D, Abrahamov A et al (1995) Esophageal involvement in chronic granulomatous disease: case report and review. Pediatr Radiol 25:308–309

    Article  CAS  PubMed  Google Scholar 

  45. Stricof DD, Glazer GM, Amendola MA (1984) Chronic granulomatous disease: value of newer imaging modalities. Pediatr Radiol 14:328–331

    Article  CAS  PubMed  Google Scholar 

  46. Kenney PJ, Brinsko RE, Patel DV (1985) Gastric involvement in chronic granulomatous disease of childhood: demonstration by computed tomography and upper gastrointestinal studies. J Comput Assist Tomogr 9:563–565

    Article  CAS  PubMed  Google Scholar 

  47. Kopen PA, McAlister WH (1984) Upper gastrointestinal and ultrasound examinations of gastric antral involvement in chronic granulomatous disease. Pediatr Radiol 14:91–93

    Article  CAS  PubMed  Google Scholar 

  48. Ballard R, Tien RD, Nohria V et al (1994) The Chédiak-Higashi syndrome: CT and MR findings. Pediatr Radiol 24:266–267

    Article  CAS  PubMed  Google Scholar 

  49. Seger RA, Gungor T, Belohradsky BH et al (2002) Treatment of chronic granulomatous disease with myeloablative conditioning and an unmodified hemopoietic allograft: a survey of the European experience, 1985–2000. Blood 100:4344–4350

    Article  CAS  PubMed  Google Scholar 

  50. Soncini E, Slatter MA, Jones LB et al (2009) Unrelated donor and HLA-identical sibling haematopoietic stem cell transplantation cure chronic granulomatous disease with good long-term outcome and growth. Br J Haematol 145:73–83

    Article  CAS  PubMed  Google Scholar 

  51. Qasim W, Cavazzana-Calvo M, Davies EG et al (2009) Allogeneic hematopoietic stem-cell transplantation for leukocyte adhesion deficiency. Pediatrics 123:836–840

    Article  PubMed  PubMed Central  Google Scholar 

  52. Freeman AF, Holland SM (2010) Clinical manifestations of hyper IgE syndromes. Dis Markers 29:123–130

    Article  PubMed  PubMed Central  Google Scholar 

  53. Grimbacher B, Holland SM, Gallin JI et al (1999) Hyper-IgE syndrome with recurrent infections: an autosomal dominant multisystem disorder. N Engl J Med 340:692–702

    Article  CAS  PubMed  Google Scholar 

  54. Kirchner SG, Sivit CJ, Wright PF (1985) Hyperimmunoglobulinemia E syndrome: association with osteoporosis and recurrent fractures. Radiology 156:362

    Article  CAS  PubMed  Google Scholar 

  55. Goussetis E, Peristeri I, Kitra V et al (2010) Successful long-term immunologic reconstitution by allogeneic hematopoietic stem cell transplantation cures patients with autosomal dominant hyper-IgE syndrome. J Allergy Clin Immunol 126:392–394

    Article  PubMed  Google Scholar 

  56. Bittner TC, Pannicke U, Renner ED et al (2010) Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation. Klin Padiatr 222:351–355

    Article  CAS  PubMed  Google Scholar 

  57. McDonald D, Massaad MJ, Johnston A et al (2010) Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 126:1034.e3–1035.e3

    Google Scholar 

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Correspondence to Eveline Y. Wu.

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Wu, E.Y., Ehrlich, L., Handly, B. et al. Clinical and imaging considerations in primary immunodeficiency disorders: an update. Pediatr Radiol 46, 1630–1644 (2016). https://doi.org/10.1007/s00247-016-3684-x

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  • DOI: https://doi.org/10.1007/s00247-016-3684-x

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