Skip to main content
Top
Published in: Pediatric Radiology 12/2016

01-11-2016 | Review

Clinical and imaging considerations in primary immunodeficiency disorders: an update

Authors: Eveline Y. Wu, Lauren Ehrlich, Brian Handly, Donald P. Frush, Rebecca H. Buckley

Published in: Pediatric Radiology | Issue 12/2016

Login to get access

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.
Literature
1.
go back to reference Yin EZ, Frush DP, Donnelly LA et al (2001) Primary immunodeficiency disorders in pediatric patients: clinical features and imaging findings. AJR Am J Roentgenol 176:1541–1552CrossRefPubMed Yin EZ, Frush DP, Donnelly LA et al (2001) Primary immunodeficiency disorders in pediatric patients: clinical features and imaging findings. AJR Am J Roentgenol 176:1541–1552CrossRefPubMed
2.
go back to reference Ballow M (2002) Primary immunodeficiency disorders: antibody deficiency. J Allergy Clin Immunol 109:581–591CrossRefPubMed Ballow M (2002) Primary immunodeficiency disorders: antibody deficiency. J Allergy Clin Immunol 109:581–591CrossRefPubMed
3.
4.
go back to reference 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 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
5.
go back to reference 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 149:410–423CrossRefPubMedPubMedCentral 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 149:410–423CrossRefPubMedPubMedCentral
6.
go back to reference Curtin JJ, Webster AD, Farrant J et al (1991) Bronchiectasis in hypogammaglobulinaemia: computed tomography assessment. Clin Radiol 44:82–84CrossRefPubMed Curtin JJ, Webster AD, Farrant J et al (1991) Bronchiectasis in hypogammaglobulinaemia: computed tomography assessment. Clin Radiol 44:82–84CrossRefPubMed
7.
go back to reference Hollingsworth CL (2005) Thoracic disorders in the immunocompromised child. Radiol Clin N Am 43:435–447CrossRefPubMed Hollingsworth CL (2005) Thoracic disorders in the immunocompromised child. Radiol Clin N Am 43:435–447CrossRefPubMed
8.
go back to reference Buckley RH (2008) Primary immunodeficiency diseases. In: Paul WE (ed) Fundamental immunology, 6th edn. Lippencott-Raven Press, Philadelphia, pp 1523–1552 Buckley RH (2008) Primary immunodeficiency diseases. In: Paul WE (ed) Fundamental immunology, 6th edn. Lippencott-Raven Press, Philadelphia, pp 1523–1552
9.
go back to reference Johkoh T, Müller NL, Pickford HA et al (1999) Lymphocytic interstitial pneumonia: thin-section CT findings in 22 patients. Radiology 212:567–572CrossRefPubMed Johkoh T, Müller NL, Pickford HA et al (1999) Lymphocytic interstitial pneumonia: thin-section CT findings in 22 patients. Radiology 212:567–572CrossRefPubMed
10.
go back to reference 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 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.
go back to reference 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 130:495–500CrossRefPubMedPubMedCentral 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 130:495–500CrossRefPubMedPubMedCentral
12.
go back to reference Filipovich AH, Mathur A, Kamat D et al (1994) Lymphoproliferative disorders and other tumors complicating immunodeficiencies. Immunodeficiency 5:91–112PubMed Filipovich AH, Mathur A, Kamat D et al (1994) Lymphoproliferative disorders and other tumors complicating immunodeficiencies. Immunodeficiency 5:91–112PubMed
13.
go back to reference Brosens LA, Tytgat KM, Morsink FH et al (2008) Multiple colorectal neoplasms in X-linked agammaglobulinemia. Clin Gastroenterol Hepatol 6:115–119CrossRefPubMed Brosens LA, Tytgat KM, Morsink FH et al (2008) Multiple colorectal neoplasms in X-linked agammaglobulinemia. Clin Gastroenterol Hepatol 6:115–119CrossRefPubMed
14.
go back to reference 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 5:162PubMedPubMedCentral 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 5:162PubMedPubMedCentral
15.
16.
17.
go back to reference Hedlund GL, Griscom NT, Cleveland RH et al (1998) Respiratory system. In: Kirks DR (ed) Practical pediatric imaging. Lippincott-Raven, Philadelphia, pp 756–757 Hedlund GL, Griscom NT, Cleveland RH et al (1998) Respiratory system. In: Kirks DR (ed) Practical pediatric imaging. Lippincott-Raven, Philadelphia, pp 756–757
18.
go back to reference 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 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
19.
go back to reference Buckley RH, Schiff RI, Schiff SE et al (1997) Human severe combined immunodeficiency (SCID): genetic, phenotypic and functional diversity in 108 infants. J Pediatr 130:378–387CrossRefPubMed Buckley RH, Schiff RI, Schiff SE et al (1997) Human severe combined immunodeficiency (SCID): genetic, phenotypic and functional diversity in 108 infants. J Pediatr 130:378–387CrossRefPubMed
20.
go back to reference 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 124:1152–1160CrossRefPubMedPubMedCentral 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 124:1152–1160CrossRefPubMedPubMedCentral
21.
go back to reference 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 126:602–610CrossRefPubMed 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 126:602–610CrossRefPubMed
22.
go back to reference 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 114:1145–1453CrossRef 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 114:1145–1453CrossRef
23.
go back to reference Aiuti A, Cattaneo F, Galimberti S et al (2009) Gene therapy for immunodeficiency due to adensone deaminase deficiency. N Engl J Med 360:447–458CrossRefPubMed Aiuti A, Cattaneo F, Galimberti S et al (2009) Gene therapy for immunodeficiency due to adensone deaminase deficiency. N Engl J Med 360:447–458CrossRefPubMed
24.
go back to reference 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 118:3132–3142CrossRef 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 118:3132–3142CrossRef
27.
go back to reference McDonald-McGinn AM, Sullivan KE (2011) Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine 90:1–18CrossRefPubMed McDonald-McGinn AM, Sullivan KE (2011) Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine 90:1–18CrossRefPubMed
28.
go back to reference 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 109:4539–4547CrossRefPubMedPubMedCentral 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 109:4539–4547CrossRefPubMedPubMedCentral
29.
go back to reference 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 116:2229–2236CrossRefPubMedPubMedCentral 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 116:2229–2236CrossRefPubMedPubMedCentral
30.
go back to reference Chinn IK, Markert ML (2011) Induction of tolerance to parathyroid grafts using allogeneic thymus tissue in patients with DiGeorge anomaly. J Allergy Clin Immunol 127:1351–1355CrossRefPubMedPubMedCentral Chinn IK, Markert ML (2011) Induction of tolerance to parathyroid grafts using allogeneic thymus tissue in patients with DiGeorge anomaly. J Allergy Clin Immunol 127:1351–1355CrossRefPubMedPubMedCentral
31.
go back to reference 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 30:179–194CrossRef 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 30:179–194CrossRef
32.
go back to reference Davies EG (2009) Update on the management of immunodeficiency in ataxia-telangiectasia. Expert Rev Clin Immunol 5:565–575CrossRefPubMed Davies EG (2009) Update on the management of immunodeficiency in ataxia-telangiectasia. Expert Rev Clin Immunol 5:565–575CrossRefPubMed
33.
go back to reference 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 116:27–35CrossRefPubMed 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 116:27–35CrossRefPubMed
34.
go back to reference Farina L, Uggetti C, Ottolini A et al (1994) Ataxia-telangiectasia: MR and CT findings. J Comput Assist Tomogr 18:724–727CrossRefPubMed Farina L, Uggetti C, Ottolini A et al (1994) Ataxia-telangiectasia: MR and CT findings. J Comput Assist Tomogr 18:724–727CrossRefPubMed
35.
go back to reference Ming JE, Stiehm ER, Graham JM (1996) Immunodeficiency as a component of recognizable syndromes. Am J Med Genet 66:178–198CrossRef Ming JE, Stiehm ER, Graham JM (1996) Immunodeficiency as a component of recognizable syndromes. Am J Med Genet 66:178–198CrossRef
36.
go back to reference Mäkitie O, Perheentupa J, Kaitila I (1992) Growth in cartilage-hair hypoplasia. Pediatr Radiol 31:176–180CrossRef Mäkitie O, Perheentupa J, Kaitila I (1992) Growth in cartilage-hair hypoplasia. Pediatr Radiol 31:176–180CrossRef
37.
go back to reference Mackay IR, Rosen FS (2000) Immunodeficiency diseases caused by defects in phagocytes. N Engl J Med 343:1703–1714CrossRef Mackay IR, Rosen FS (2000) Immunodeficiency diseases caused by defects in phagocytes. N Engl J Med 343:1703–1714CrossRef
38.
go back to reference Etzioni A (2007) Leukocyte adhesion deficiencies: molecular basis, clinical findings, and therapeutic options. Adv Exp Med Biol 601:51–60CrossRefPubMed Etzioni A (2007) Leukocyte adhesion deficiencies: molecular basis, clinical findings, and therapeutic options. Adv Exp Med Biol 601:51–60CrossRefPubMed
39.
go back to reference Greenberg DE, Shoffner AR, Zelazny AM et al (2010) Recurrent Granulibacter bethesdensis infections and chronic granulomatous disease. Emerg Infect Dis 16:1341–1348CrossRefPubMedPubMedCentral Greenberg DE, Shoffner AR, Zelazny AM et al (2010) Recurrent Granulibacter bethesdensis infections and chronic granulomatous disease. Emerg Infect Dis 16:1341–1348CrossRefPubMedPubMedCentral
40.
go back to reference Winkelstein JA, Marino MC, Johnston RB Jr et al (2000) Chronic granulomatous disease: report on a national registry of 368 patients. Medicine 79:155–169CrossRefPubMed Winkelstein JA, Marino MC, Johnston RB Jr et al (2000) Chronic granulomatous disease: report on a national registry of 368 patients. Medicine 79:155–169CrossRefPubMed
41.
go back to reference Gold RH, Douglas SD, Peger L et al (1969) Roentgenographic features of the neutrophil dysfunction syndromes. Radiology 92:1045–1054CrossRefPubMed Gold RH, Douglas SD, Peger L et al (1969) Roentgenographic features of the neutrophil dysfunction syndromes. Radiology 92:1045–1054CrossRefPubMed
42.
go back to reference Chusid MJ, Sty JR, Wells RG (1998) Pulmonary aspergillosis appearing as chronic nodular disease in chronic granulomatous disease. Pediatr Radiol 18:232–234CrossRef Chusid MJ, Sty JR, Wells RG (1998) Pulmonary aspergillosis appearing as chronic nodular disease in chronic granulomatous disease. Pediatr Radiol 18:232–234CrossRef
43.
go back to reference Renner WR, Johnson JF, Lichtenstein JE et al (1991) Esophageal inflammation and stricture: complication of chronic granulomatous disease of childhood. Radiology 178:189–191CrossRefPubMed Renner WR, Johnson JF, Lichtenstein JE et al (1991) Esophageal inflammation and stricture: complication of chronic granulomatous disease of childhood. Radiology 178:189–191CrossRefPubMed
44.
go back to reference Hiller N, Fisher D, Abrahamov A et al (1995) Esophageal involvement in chronic granulomatous disease: case report and review. Pediatr Radiol 25:308–309CrossRefPubMed Hiller N, Fisher D, Abrahamov A et al (1995) Esophageal involvement in chronic granulomatous disease: case report and review. Pediatr Radiol 25:308–309CrossRefPubMed
45.
go back to reference Stricof DD, Glazer GM, Amendola MA (1984) Chronic granulomatous disease: value of newer imaging modalities. Pediatr Radiol 14:328–331CrossRefPubMed Stricof DD, Glazer GM, Amendola MA (1984) Chronic granulomatous disease: value of newer imaging modalities. Pediatr Radiol 14:328–331CrossRefPubMed
46.
go back to reference 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 9:563–565CrossRefPubMed 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 9:563–565CrossRefPubMed
47.
go back to reference Kopen PA, McAlister WH (1984) Upper gastrointestinal and ultrasound examinations of gastric antral involvement in chronic granulomatous disease. Pediatr Radiol 14:91–93CrossRefPubMed Kopen PA, McAlister WH (1984) Upper gastrointestinal and ultrasound examinations of gastric antral involvement in chronic granulomatous disease. Pediatr Radiol 14:91–93CrossRefPubMed
48.
go back to reference Ballard R, Tien RD, Nohria V et al (1994) The Chédiak-Higashi syndrome: CT and MR findings. Pediatr Radiol 24:266–267CrossRefPubMed Ballard R, Tien RD, Nohria V et al (1994) The Chédiak-Higashi syndrome: CT and MR findings. Pediatr Radiol 24:266–267CrossRefPubMed
49.
go back to reference 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 100:4344–4350CrossRefPubMed 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 100:4344–4350CrossRefPubMed
50.
go back to reference 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 145:73–83CrossRefPubMed 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 145:73–83CrossRefPubMed
51.
go back to reference Qasim W, Cavazzana-Calvo M, Davies EG et al (2009) Allogeneic hematopoietic stem-cell transplantation for leukocyte adhesion deficiency. Pediatrics 123:836–840CrossRefPubMedPubMedCentral Qasim W, Cavazzana-Calvo M, Davies EG et al (2009) Allogeneic hematopoietic stem-cell transplantation for leukocyte adhesion deficiency. Pediatrics 123:836–840CrossRefPubMedPubMedCentral
53.
go back to reference Grimbacher B, Holland SM, Gallin JI et al (1999) Hyper-IgE syndrome with recurrent infections: an autosomal dominant multisystem disorder. N Engl J Med 340:692–702CrossRefPubMed Grimbacher B, Holland SM, Gallin JI et al (1999) Hyper-IgE syndrome with recurrent infections: an autosomal dominant multisystem disorder. N Engl J Med 340:692–702CrossRefPubMed
54.
go back to reference Kirchner SG, Sivit CJ, Wright PF (1985) Hyperimmunoglobulinemia E syndrome: association with osteoporosis and recurrent fractures. Radiology 156:362CrossRefPubMed Kirchner SG, Sivit CJ, Wright PF (1985) Hyperimmunoglobulinemia E syndrome: association with osteoporosis and recurrent fractures. Radiology 156:362CrossRefPubMed
55.
go back to reference 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 126:392–394CrossRefPubMed 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 126:392–394CrossRefPubMed
56.
go back to reference 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 222:351–355CrossRefPubMed 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 222:351–355CrossRefPubMed
57.
go back to reference 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 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
Metadata
Title
Clinical and imaging considerations in primary immunodeficiency disorders: an update
Authors
Eveline Y. Wu
Lauren Ehrlich
Brian Handly
Donald P. Frush
Rebecca H. Buckley
Publication date
01-11-2016
Publisher
Springer Berlin Heidelberg
Published in
Pediatric Radiology / Issue 12/2016
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-016-3684-x

Other articles of this Issue 12/2016

Pediatric Radiology 12/2016 Go to the issue

Hermes

Hermes