Latin American challenges with the diagnosis and treatment of primary immunodeficiency diseases

Expert Review of Clinical Immunology

Volumn 13, Issue 5, 2017, Pages 483-489

  Costa Carvalho, Beatriz ^a   González Serrano, Maria ^b   Espinosa Padilla, Sara ^b   Segundo, Gesmar ^c  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^c FEDERAL UNIVERSITY OF UBERLÂNDIA   (Brazil)

Author keywords

education program; family association; immunoglobulin; LASID; Latin America; Primary immunodeficiency; registry

Indexed keywords

HUMAN IMMUNOGLOBULIN;

EDUCATION PROGRAM; HEALTH CARE ORGANIZATION; HUMAN; IMMUNE DEFICIENCY; LABORATORY TEST; PREVALENCE; REGISTER; REVIEW; SOUTH AND CENTRAL AMERICA; VACCINATION; EDUCATION; IMMUNOLOGY; LABORATORY TECHNIQUE; QUESTIONNAIRE;

ALLERGY AND IMMUNOLOGY; CLINICAL LABORATORY TECHNIQUES; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LATIN AMERICA; REGISTRIES; SURVEYS AND QUESTIONNAIRES;

EID: 85018246030     PISSN: 1744666X     EISSN: 17448409     Source Type: Journal    
DOI: 10.1080/1744666X.2017.1255143     Document Type: Review

References (55)

1. LASID | Sociedad Latinoamericana de Inmunodeficiencias. [cited 2016 Aug20]. Available from:www.lasid.org
2. Condino-Neto A, Franco JL, Trujillo-Vargas C, et al. Critical issues and needs in management of primary immunodeficiency diseases in Latin America. Allergol Immunopathol (Madr). 2011;39(1):45–51.
3. Zelazko M, Carneiro-Sampaio M, Cornejo de Luigi M, et al. Primary immunodeficiency diseases in Latin America:first report from eight countries participating in the LAGID. Latin American Group for primary immunodeficiency diseases. J Clin Immunol. 1998;18(2):161–166.
4. Leiva LE, Zelazco M, Oleastro M, et al. Primary immunodeficiency diseases in Latin America:the second report of the LAGID registry. Latin American Group for primary immunodeficiency diseases. J Clin Immunol. 2007;27(1):101–108.
5. LASID | Sociedad Latinoamericana de Inmunodeficiencias. [cited 2016 Aug25]. Available from:https://registrolasid.org/estatisticas.html
6. Bousfiha AA, Jeddane L, Ailal F, et al. Primary immunodeficiency diseases worldwide:more common than generally thought. J Clin Immunol. 2013;33(1):1–7.
7. Modell V, Knaus M, Modell F, et al. Global overview of primary immunodeficiencies:a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery. Immunol Res. 2014;60(1):132–144.•• It shows a global overview of PID from different continents.
8. ESID–European Society for Immunodeficiencies. [cited 2016 Aug]. Available from:http://esid.org/Working-Parties/Registry/Old-Registryw
9. Conley ME, Howard VC., X-Linked agammaglobulinemia. In:Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA):University of Washington. 1993-2016. 2001 Apr 05 [updated 2011 Nov 17].
10. Sullivan KE. Chromosome 22q11.2 deletion syndrome:DiGeorge syndrome/velocardiofacial syndrome. Immunol Allergy Clin N Am. 2008;28:353–366.
11. Dantas EO, Aranda CS, Rêgo Silva AM, et al. Doctors’ awareness concerning primary immunodeficiencies in Brazil. Allergol Immunopathol (Madr). 2015;43(3):272–278.
12. Rezaei N, Aghamohammadi A, Moin 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(6):519–532.
13. Mellouli F, Mustapha IB, Khaled MB, et al. Report of the Tunisian registry of primary immunodeficiencies:25-years of experience (1988-2012). J Clin Immunol. 2015;35(8):745–753.
14. de Oliveira-Junior EB, Zurro NB, Prando C, et al. Clinical and genotypic spectrum of chronic granulomatous disease in 71 Latin American patients:first report from the LASID registry. Pediatr Blood Cancer. 2015;62(12):2101–2107.•• A survey of Chronic Granulomatous Disease in Latin America
15. Cabral-Marques O, Klaver S, Schimke LF, et al. First report of the Hyper-IgM syndrome registry of the Latin American Society for Immunodeficiencies:novel mutations, unique infections, and outcomes. J Clin Immunol. 2014;34(2):146–156.
16. Costa-Carvalho BT, Grumach AS, Franco JL, et al. Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice. J Clin Immunol. 2014;34(1):10–22.• Educational paper focused to help general clinicians to investigate patients with recurrent/severe infections.
17. Dantas EO, Aranda CS, Nobre FA, et al. Medical awareness concerning primary immunodeficiency diseases in the city of São Paulo, Brazil. Einstein (Sao Paulo). 2013;11(4):479–485.
18. Condino-Neto A, Franco JL, Espinosa-Rosales FJ, et al. Advancing the management of primary immunodeficiency diseases in Latin America:Latin American Society for Immunodeficiencies (LASID) initiatives. Allergol Immunopathol (Madr). 2012;40(3):187–193.
19. Alvarez-Cardona A, Espinosa-Padilla SE, Reyes SO, et al. Primary immunodeficiency diseases in aguascalientes, Mexico:results from an educational program. J Clin Immunol. 2016;36(3):173–178.•• A successful program to increase awareness and diagnosis of PID.
20. Mazzucchelli JT, Bonfim C, Castro GG, et al. Severe combined immunodeficiency in Brazil:management, prognosis, and BCG-associated complications. J Investig Allergol Clin Immunol. 2014;24(3):184–191.• A Brazilian survey of SCID patients in Brazil.
21. Moraes-Vasconcelos D, Grumach AS, Yamaguti A, et al. Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor. Clin Infect Dis. 2005;41(4):e31–e37.
22. Cabral-Marques O, Schimke LF, Pereira PV, 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(2):212–220.• The unusual microorganism that affect patients with CD40L deficiency in Brazil.
23. Cabral-Marques O, Arslanian C, Ramos RN, et al. Dendritic cells from X-linked hyper-IgM patients present impaired responses to Candida albicans and Paracoccidioides brasiliensis. J Allergy Clin Immunol. 2012;129(3):778–786.•• Physiopathology mechanisms that explain the occurrence of fungal infections in CD40L deficiency.
24. Pelly T, Moore DA, Gilman R, et al. Recent tuberculosis advances in Latin America. Curr Opin Infect Dis. 2004;17(5):397–403.
25. Realpe T, Correa N, Rozo JC, et al. Population structure among mycobacterium tuberculosis isolates from pulmonary tuberculosis patients in Colombia. PLoS One. 2014;9(4):e93848.
26. Krauss MR, Harris DR, Abreu T, et al. NISDI pediatric study group. Tuberculosis in HIVinfected infants, children, and adolescents in Latin America. Braz J Infect Dis. 2015;19(1):23–29.
27. Boisson-Dupuis S, Bustamante J, El-Baghdadi J, et al. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunol Rev. 2015;264(1):103–120.
28. Browne SK, Burbelo PD, Chetchotisakd P, et al. Adult-onset immunodeficiency in Thailand and Taiwan. N Engl J Med. 2012;367(8):725–734.
29. Picard C, Al-Herz W, Bousfiha A, et al. Primary immunodeficiency diseases:an update on the classification from the international union of Immunological Societies Expert Committee for primary immunodeficiency 2015. J Clin Immunol. 2015;35(8):696–726.
30. Jolles S, Borrell R, Zouwail S, et al. Calculated globulin (CG) as a screening test for antibody deficiency. Clin Exp Immunol. 2014;177(3):671–678.
31. Ding Y, Thompson JD, Kobrynski L, et al. Cost-effectiveness/cost-benefit analysis of newborn screening for severe combined immune deficiency in Washington State. J Pediatr. 2016;172:127–135.
32. Kanegae MP, Barreiros LA, Mazzucchelli JT, et al. Neonatal screening for severe combined immunodeficiency in Brazil. J Pediatr (Rio J). 2016. DOI:10.1016/j.jped.2015.10.006
33. APAE (Associação de Pais e Amigos dos Excepcionais) de São Paulo. [cited 2016 Aug]. Available from:http://www.apaesp.org.br
34. Gonzalez B, Moreno S, Burdach R, et al. Clinical presentation of Bacillus Calmette-Guérin infections in patients with immunodeficiency syndromes. Pediatr Infect Dis J. 1989;8(4):201–206.
35. Grupo Brasileiro de Imunodeficiências (BRAGID). [cited 2016 Aug]. Available from:http://www.bragid.org.br
36. Marciano BE, Huang CY, Joshi G, et al. BCG vaccination in patients with severe combined immunodeficiency:complications, risks, and vaccination policies. J Allergy Clin Immunol. 2014;133(4):1134–1141.•• A survey involving 17 countries of BCG risks in SCID patients.
37. Bearden D, Collett M, Quan PL, et al. Enteroviruses in XLinked agammaglobulinemia:update on epidemiology and therapy. J Allergy ClinImmunol Pract. 2016 Feb 13. DOI:10.1016/j.jaip.2015.12.015
38. Modell V, Quinn J, Orange J, et al. Primary immunodeficiencies worldwide:an updated overview from the Jeffrey Modell Centers global network. Immunol Res. 2016;64(3):736–753.
39. Chapel H, Gardulf A. Subcutaneous immunoglobulin replacement therapy:the European experience. Curr Opin Allergy Clin Immunol. 2013;13(6):623–629.
40. Bezrodnik L, Gómez Raccio A, Belardinelli G, et al. Comparative study of subcutaneous versus intravenous IgG replacement therapy in pediatric patients with primary immunodeficiency diseases:a multicenter study in Argentina. J Clin Immunol. 2013;33(7):1216–1222.
41. Perraudin C, Bourdin A, Spertini F, et al. Switching patients to home-based subcutaneous immunoglobulin:an economic evaluation of an interprofessional drug therapy management program. J Clin Immunol. 2016;36(5):502–510.
42. Ministério da Saúde–Portal da Saúde. [cited 2016 Aug]. Available from:http://portalsaude.saude.gov.br
43. Yunoki M, Kurosu T, Koketsu RK, et al. Neutralizing activities of human immunoglobulin derived from donors in Japan against mosquito-borne flaviviruses, Japanese encephalitis virus, West Nile virus, and dengue virus. Biologics. 2016;10:99–102.
44. Pai SY, Logan BR, Griffith LM, et al. Transplantation outcomes for severe combined immunodeficiency, 2000–2009. N Engl J Med. 2014;371(5):434–446.
45. Fernandes JF, Rocha V, Labopin M, et al. Eurocord and inborn errors working party of european group for blood and marrow transplantation. Transplantation in patients with SCID:mismatched related stem cells or unrelated cord blood? Blood. 2012;119(12):2949–2955.
46. Ruiz-Argüelles GJ, Abello-Polo V, Arrais-Rodrígues C, et al. Publications of bone marrow transplants in Latin America. A report of the Latin American Group of bone marrow transplantation. Bone Marrow Transplant. 2015;50(8):1130–1131.
47. Candotti F. Advances of gene therapy for primary immunodeficiencies. F1000Res. 2016 Mar 9;5:310.
48. World Health Organization (WHO). [cited 2016 Aug]. Available from:http://www.who.int/mediacentre/factsheets/fs290/en/
49. Cavalcante LJ, Vale MR. Epidemiological aspects of visceral leishmaniasis (kala-azar) in Ceará in the period 2007 to 2011. Rev Bras Epidemiol. 2014;17:911–924.
50. Ministério da Saúde–Portal da Saúde. [cited 2016 Aug]. Available from:http://bvsms.saude.gov.br/bvs/publicacoes/manual_recomendacoes_pacientes_leishmania.pdf
51. Moore EM, Lockwood DN. Treatment of visceral leishmaniasis. J Glob Infect Dis. 2010;2(2):151–158.
52. Murray HW. Prevention of relapse after chemotherapy in a chronic intracellular infection:mechanisms in experimental visceral leishmaniasis. J Immunol. 2005;174(8):4916–4923.
53. Murray HW, Lu CM, Brooks EB, et al. Modulation of T cell costimulation as immuno- or immunochemotherapy in experimental visceral leishmaniasis. Infect Immun. 2003;71(11):6453–6462.
54. Soong L, Xu JC, Grewal IS, et al. Disruption of CD40-CD40 ligand interactions results in an enhanced susceptibility to Leishmania amazonensis infection. Immunity. 1996;4(3):263–273.
55. Condino-Neto A, Sorensen RU, Gómez Raccio AC, et al. Current state and future perspectives of the Latin American Society for Immunodeficiencies (LASID). Allergol Immunopathol (Madr). 2015;43(5):493–497.