Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice

Journal of Clinical Immunology

Volumn 34, Issue 1, 2014, Pages 10-22

  Costa Carvalho, Beatriz Tavares ^a   Grumach, Anete Sevciovic ^b   Franco, José Luis ^c   Espinosa Rosales, Francisco Javier ^d   Leiva, Lily E ^e   King, Alejandra ^f   Porras, Oscar ^g   Bezrodnik, Liliana ^h   Oleastro, Mathias ⁱ   Sorensen, Ricardo U ^e,j   Condino Neto, Antonio ^k  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b FACULDADE DE MEDICINA DO ABC   (Brazil)

^c UNIVERSIDAD DE ANTIOQUIA   (Colombia)

^d INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^e LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f HOSPITAL LUIS CALVO MACKENNA   (Chile)

^g HOSPITAL NACIONAL DE NIÑOS   (Costa Rica)

^h HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

ⁱ HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^j UNIVERSIDAD DE LA FRONTERA   (Chile)

^k UNIVERSITY OF SÃO PAULO   (Brazil)

more..

Author keywords

autoimmunity; cancer; inflammation; PIDD; Primary immunodeficiency; recurrent infections; warning signs

Indexed keywords

ACUTE OTITIS MEDIA; CLINICAL PRACTICE; DERMATOLOGY; GASTROENTEROLOGIST; GASTROENTEROLOGY; GENERAL PRACTITIONER; HEMATOLOGIST; HEMATOLOGY; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; IMMUNE DEFICIENCY; IMMUNOLOGIST; MEDICAL SPECIALIST; ONCOLOGY; OTORHINOLARYNGOLOGY; PHYSICIAN; PRIORITY JOURNAL; PULMONOLOGIST; PULMONOLOGY; RECURRENT INFECTION; REVIEW; RHEUMATOLOGY; SCREENING;

DIAGNOSTIC TESTS, ROUTINE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFECTION;

EID: 84896719384     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-013-9954-6     Document Type: Review

References (80)

1. Arason GJ, Jorgensen GH, Ludviksson BR. Primary immunodeficiency and autoimmunity: lessons from human diseases. Scand J Immunol. 2010;71:317-28.
2. Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, et al. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Front Immunol. 2011;2:54.
3. Jeffrey Modell Foundation. 10 Warning Signs [2013-01-30]. Available from: http://www.info4pi.org/aboutPI/index.cfm?section=aboutPI&content= warningsigns. Accessed 22 May 2013.
4. European Society for Immunodeficiencies. 10 Warning Signs of PID-General [2013-01-30]. Available from: http://www.esid.org/clinical-10-warning-signs-of- pid-general-339-0. Accessed 22 May 2013.
5. US Immunodeficiency Network. Disease Registry [1992]. Available from: http://www.usidnet.org/pub/Disease-Registry. Accessed 22 May 2013.
6. Immune Deficiency Foundation. About Primary Immunodeficiency Diseases. Available from: http://primaryimmune.org/about-primary-immunodeficiency- diseases. Accessed 22 May 2013.
7. Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency: a new paradigm is needed for the 21st century. Ann NY Acad Sci. 2011;1238:7-14.
8. Subbarayan A, Colarusso G, Hughes SM, Gennery AR, Slatter M, Cant AJ, et al. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics. 2011;27:810-6.
9. Mehra A, Sidi P, Doucette J, Rouvelas H, Cunningham-Rundles C. Subspecialty evaluation of chronically ill hospitalized patients with suspected immune defects. Ann Allergy Asthma Immunol. 2007;99:14.
10. Shearer WT, Cunningham-Rundles C, Ochs HD. Primary immunodeficiency: looking backwards, looking forwards. J Allergy Clin Immunol. 2004;113(4):607-9.
11. Buckley RH. Primary immunodeficiency or not? Making the correct diagnosis. J Allergy Clin Immunol. 2006;117(4):756-8.
12. Ballow M, Notarangelo L, Grimbacher B, Cunningham Rundles C, Stein M, Helbert M, et al. Immunodeficiencies. Clin Exp Immunol. 2009;158:14-22.
13. Pichichero ME, Casey JR. Otitis media. Expert Opin Pharmacother. 2002;3:1073-90.
14. Benninger MS, Ferguson BJ, Hadley JA, Hamilos DL, Jacobs M, Kennedy DW, et al. Adult chronic rhinosinusitis: definitions, diagnosis, epidemiology, and pathophysiology. Otolaryngol Head Neck Surg. 2003;129(3 Suppl):S1-32.
15. von Linstow ML, Holst KK, Larsen K, Koch A, Andersen PK, Høgh B. Acute respiratory symptoms and general illness during the first year of life: a population-based birth cohort study. Pediatr Pulmonol. 2008;43(6):584-93.
16. Grimnes G, Beckman H, Lappegård KT, Mollnes TE, Skogen V. Recurrent meningococcal sepsis in a presumptive immunocompetent host shown to be complement C5 deficient - a case report. APMIS. 2011;119:479-84.
17. Fried AJ, Bonilla FA. Pathogenesis, diagnosis, and management of primary antibody deficiencies and infections. Clin Microbiol Rev. 2009;22:396-414.
18. Winkelstein JA, Marino MC, Lederman HM, Jones SM, Sullivan K, Burks AW, et al. X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore). 2006;85:193-202.
19. Halliday E, Winkelstein J, Webster AD. Enteroviral infections in primary immunodeficiency (PID): a survey of morbidity and mortality. J Infect. 2003;46:1-8.
20. Winkelstein JA, Marino MC, Johnston Jr RB, Boyle J, Curnutte J, Gallin JI, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore). 2000;79:155-69.
21. de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, et al. Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. Medicine (Baltimore). 2010;89:381-402.
22. Mazzucchelli JL, Buzolin M, Vilela MS, Moraes LL, Porto Neto AC, Monteiro FP, et al. Severe combined immunodeficiency in Brazil: a multi-center analysis of demographics; clinical features regarding BCG infection and outcome in 33 patients. J Clin Immunol. 2011;31 Suppl 1:S1-71.
23. Patel MM, Lopez-Collada R, Bulhões MM, De Oliveira LH, Marquez AB, Fannery B, et al. Intussusception risk and benefits of rotavirus vaccination in Mexico and Brazil. N Engl J Med. 2011;364:2283-92.
24. Gumede N, Muthambi V, Schoub BD. Immunodeficiency-associated vaccine-derived poliovirus type 3 in infant, South Africa, 2011. Emerg Infect Dis. 2012;18(6):992-4.
25. Condino-Neto A, Oleastro M. Phenotype and genotype spectrum of chronic granulomatous disease in Latin American patients: results from the LASID Registry. J Clin Immunol. 2012;32 Suppl 1:S188.
26. Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immunol. 2010;125(2):424-32.
27. Rezaei N, Aghamohammadi A, Moin M, Pourpak Z, Movahedi M, Gharagozlou M, et al. Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry. J Clin Immunol. 2006;26:519-32.
28. Richtsmeier WJ. Top 10 reasons for endoscopic maxillary sinus surgery failure. Laryngoscope. 2001;111:1952-6.
29. Wood P, Stanworth S, Burton J, Jones A, Peckham DG, Green T, et al. Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review. Clin Exp Immunol. 2007;149:410-23.
30. Aghamohammadi A, Moin M, Karimi A, Naraghi M, Zandieh F, Isaeian A, et al. Immunologic evaluation of patients with recurrent ear, nose, and throat infections. Am J Otolaryngol. 2008;29:385-92.
31. Urschel S. Otitis media in children with congenital immunodeficiencies. Curr Allergy Asthma Rep. 2010;10:425-33.
32. Cunningham-Rundles C, Bodian C. Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin Immunol. 1999;92:34-48.
33. Ryser O, Morell A, Hitzig WH. Primary immunodeficiencies in Switzerland: first report of the national registry in adults and children. J Clin Immunol. 1988;8:479-85.
34. Matamoros Florí N, Mila Llambi J, Español Boren T, Raga Borja S, Fontan CG. Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults. J Clin Immunol. 1997;17:333-9.
35. Aghamohammadi A, Moein M, Farhoudi A, Pourpak Z, Rezaei N, Abolmaali K, et al. Primary immunodeficiency in Iran: first report of the National Registry of PID in Children and Adults. J Clin Immunol. 2002;22:375-80.
36. Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, et al. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore). 2003;82:373-84.
37. Thickett KM, Kumararatne DS, Banerjee AK, Dudley R, Stableforth DE. Common variable immune deficiency: respiratory manifestations, pulmonary function and high-resolution CT scan findings. QJM. 2002;95:655-62.
38. Touw CM, van de Ven AA, de Jong PA, Terheggen-Lagro S, Beek E, Sanders EA, et al. Detection of pulmonary complications in common variable immunodeficiency. Pediatr Allergy Immunol. 2010;21:793-805.
39. Costa-Carvalho BT, Wandalsen GF, Pulici G, Aranda CS, Solé D. Pulmonary complications in patients with antibody deficiency. Allergol Immunopathol (Madr). 2011;39:128-32.
40. Jones LB, McGrogan P, Flood TJ, Gennery AR, Morton L, Thrasher A, et al. Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Clin Exp Immunol. 2008;152:211-8.
41. Woodsford MA, Spencer DA, Cant AJ. Immune deficiency and the lung. Paediat Child Health. 2011;21:213-8.
42. Agarwal S, Mayer L. Gastrointestinal manifestations in primary immune disorders. Inflamm Bowel Dis. 2010;16:703-11.
43. Al-Muhsen SZ. Gastrointestinal and hepatic manifestations of primary immune deficiency diseases. Saudi J Gastroenterol. 2010;16:66-74.
44. Guerrerio AL, Frischmeyer-Guerrerio PA, Lederman HM, Oliva-Hemker M. Recognizing gastrointestinal and hepatic manifestations of primary immunodeficiency diseases. J Pediatr Gastroenterol Nutr. 2010;51:548-55.
45. Carneiro-Sampaio M, Jacob CM, Leone CR. A proposal of warning signs for primary immunodeficiencies in the first year of life. Pediatr Allergy Immunol. 2011;22:345-6.
46. Harbuz R, Lespinasse J, Boulet S, Francannet C, Creveaux I, Benkhelifa M, et al. Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome. Prenat Diagn. 2010;30:1072-8.
47. Ozdemir O. Severe combined immune deficiency in an adenosine deaminase deficient patient. Allergy Asthma Proc. 2006;27:172-4.
48. Malamut G, Ziol M, Suarez F, Beaugrand M, Viallard JF, Lascaux AS, et al. Nodular regenerative hyperplasia: the main liver disease in patients with primary hypogammaglobulinemia and hepatic abnormalities. J Hepatol. 2008;48(1):74-82.
49. Motamed F, Aghamohammadi A, Soltani M, Mansouri M, Rezaei N, Teimourian S, et al. Evaluation of liver diseases in Iranian patients with primary antibody deficiencies. Ann Hepatol. 2009;8:196-202.
50. Cunningham-Rundles C. Hematologic complications of primary immune deficiencies. Blood Rev. 2002;16:61-4.
51. Michel M, Chanet V, Galicier L, Ruivard M, Levy Y, Hermine O, et al. Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. Medicine (Baltimore). 2004;83:254-63.
52. Mantovani AP, Monclaro MP, Skare TL. Prevalence of IgA deficiency in adult systemic lupus erythematosus and the study of the association with its clinical and autoantibody profiles. Rev Bras Reumatol. 2010;50:273-82.
53. Desai NK, Morkhandikar S, Bajpai S, Pazare AR. Autoimmune lymphoproliferative disorder in an adult patient. J Postgrad Med. 2011;57:131-3.
54. Lankisch TO, Jaeckel E, Strassburg CP. The autoimmune polyendocrinopathycandidiasis-ectodermal dystrophy or autoimmune polyglandular syndrome type 1. Semin Liver Dis. 2009;29:307-14.
55. Michels AW, Gottlieb PA. Autoimmune polyglandular syndromes. Nat Rev Endocrinol. 2010;6:270-7.
56. Jesus AA, Liphaus BL, Silva CA, Bando SY, Andrade LE, Coutinho A, et al. Complement and antibody primary immunodeficiency in juvenile systemic lupus erythematosus patients. Lupus. 2011;20:1275-84.
57. American College of Rheumatology Ad Hoc Committee on Immunologic Testing Guidelines. Guidelines for immunologic laboratory testing in the rheumatic diseases: an introduction. Arthritis Rheum. 2002;47(4):429-33.
58. Machado P, Santos A, Faria E, Silva J, Malcata A, Chieira C. Arthritis and X linked agammaglobulinemia. Acta Reumatol Port. 2008;33:464-7.
59. Sordet C, Cantagrel A, Schaeverbeke T, Sibilia J. Bone and joint disease associated with primary immune deficiencies. Joint Bone Spine. 2005;72:503-14.
60. Goldbach-Mansky R, Kastner DL. Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses. J Allergy Clin Immunol. 2009;124:1141-9.
61. Sillevis Smitt JH, Wulffraat NM, Kuijpers TW. The skin in primary immunodeficiency disorders. Eur J Dermatol. 2005;15:425-32.
62. Berron-Ruiz A, Berron-Perez R, Ruiz-Maldonado R. Cutaneous markers of primary immunodeficiency diseases in children. Pediatr Dermatol. 2000;17:91-6.
63. Moin A, Farhoudi A, Moin M, Pourpak Z, Bazargan N. Cutaneous manifestations of primary immunodeficiency diseases in children. Iran J Allergy Asthma Immunol. 2006;5:121-6.
64. Antachopoulos C, Walsh TJ, Roilides E. Fungal infections in primary immunodeficiencies. Eur J Pediatr. 2007;166:1099-117.
65. Valente NYS, Machado MCMR, Boggio P, Alves ACF, Bergonse FN, Casella E, et al. Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes. Clinics. 2006;61:327-32.
66. Huizing M, Helip-Wooley A, Westbroek W, Gunay-Aygun M, Gahl WA. Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet. 2008;9:359-86.
67. Ozcan E, Notarangelo LD, Geha RS. Primary immune deficiencies with aberrant IgE production. J Allergy Clin Immunol. 2008;122:1054-62.
68. Bezrodnik L, Raccio AC, Canil LM, Rey MA, Carabajal PC, Fossati CA, et al. Hypogammaglobulinaemia secondary to cow-milk allergy in children under 2 years of age. Immunology. 2007;122:140-6.
69. Zhang Q, Davis JC, Ian MPH, Lamborn T, Freeman AF, Jing H, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361:2046-55.
70. Bowen T, Cicardi M, Farkas H, Bork K, Longhurst HJ, Zuraw B, et al. 2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema. Allergy Asthma Clin Immunol. 2010;6:24.
71. Immune Deficiencies Foundation of New Zealand. The clinical presentation of the primary immunodeficiency diseases a primer for physicians. In: Immune Deficiencies Foundation of New Zealand;1993. Available from: http://www.idfnz.org.nz/pub/cms/resources-medical/files/GPPRIM1.pdf. Accessed 28 May 2013.
72. Cabral-Marques O, Schimke LF, Pereira PV, Falcai A, de Oliveira JB, Hackett MJ, et al. Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients. J Clin Immunol. 2012;32:212-20.
73. Rezaei N, Farhoudi A, Pourpak Z, Aghamohammadi A, Moin M, Movahedi M, et al. Neutropenia in Iranian patients with primary immunodeficiency disorders. Haematologica. 2005;90:554-6.
74. Filipovich AH. Hemophagocytic lymphohistiocytosis and related disorders. Curr Opin Allergy Clin Immunol. 2006;6:410-5.
75. Abrams M, Paller A. Genetic immunodeficiency diseases. Adv Dermatol. 2007;23:197-229.
76. Rezaei N, Hedayat M, Aghamohammadi A, Nichols KE. Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies. J Allergy Clin Immunol. 2011;127:1329-41.
77. Chua I, Quinti I, Grimbacher B. Lymphoma in common variable immunodeficiency: interplay between immune dysregulation, infection and genetics. Curr Opin Hematol. 2008;15:368-74.
78. Regueiro JR, Porras O, Lavin M. Ataxia-telangiectasia. A primary immunodeficiency revisited. Immunol Allergy Clin North Am. 2000;20:177-206.
79. Shapiro RS. Malignancies in the setting of primary immunodeficiency: implications for hematologists/oncologists. Am J Hematol. 2011;86:48-55.
80. Vajdic CM, Mao L, van Leeuwen MT, Kirkpatrick P, Grulich AE, Riminton S. Are antibody deficiency disorders associated with a narrower range of cancers than other forms of immunodeficiency? Blood. 2010;116:1228-34.