Severe Combined Immunodeficiency in Brazil: Management, Prognosis, and BCG-Associated Complications

Severe Combined Immunodeficiency in Brazil: Management, Prognosis, and BCG-Associated Complications

Author Mazzucchelli, J. T. L. Autor UNIFESP Google Scholar
Bonfim, C. Google Scholar
Castro, G. G. Google Scholar
Condino-Neto, A. A. Google Scholar
Costa, N. M. X. Google Scholar
Cunha, L. Google Scholar
Dantas, E. O. Google Scholar
Dantas, V. M. Google Scholar
Moraes-Pinto, M. I. de Autor UNIFESP Google Scholar
Fernandes, J. F. Google Scholar
Goes, H. C. Google Scholar
Goudouris, E. Google Scholar
Grumach, A. S. Google Scholar
Guirau, L. M. B. Google Scholar
Kuntze, G. Google Scholar
Mallozzi, M. C. Google Scholar
Monteiro, F. P. Google Scholar
Moraes, L. S. L. Google Scholar
Nudelman, V. Google Scholar
Pinto, J. A. Google Scholar
Rizzo, M. C. V. Google Scholar
Porto-Neto, A. C. Google Scholar
Roxo-Junior, P. Google Scholar
Ruiz, M. Google Scholar
Rullo, V. E. V. Google Scholar
Seber, A. Autor UNIFESP Google Scholar
Takano, O. A. Google Scholar
Tavares, F. S. Google Scholar
Toledo, E. Google Scholar
Vilela, M. M. S. Google Scholar
Costa-Carvalho, B. T. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Univ Fed Parana
Universidade Federal da Bahia (UFBA)
Universidade de São Paulo (USP)
Pontifical Catholic Univ Goias
Universidade Federal de Minas Gerais (UFMG)
Diadema Hosp
Univ Fed Rio Grande do Norte
Albert Einstein Hosp
Private Off
Universidade Federal do Rio de Janeiro (UFRJ)
Fac Med ABC
Darcy Vargas Childrens Hosp
Vidas Hosp
Asa Sul Reg Hosp
Menino Jesus Hosp
Univ Passo Fundo
Base Hosp
S Jose do Rio Preto Med Sch
Universidade Estadual de Campinas (UNICAMP)
Abstract Background: Severe combined immunodeficiency (SCID) is one of the most severe forms of primary immunodeficiency. The objectives of this study were to analyze the diagnosis, treatment, and prognosis of SCID in Brazil and to document the impact of BCG vaccine.Methods: We actively searched for cases by contacting all Brazilian referral centers.Results: We contacted 23 centers and 70 patients from 65 families. Patients were born between 1996 and 2011, and 49 (70%) were male. More than half (39) of the diagnoses were made after 2006. Mean age at diagnosis declined from 9.7 to 6.1 months (P=.058) before and after 2000, respectively, and mean delay in diagnosis decreased from 7.9 to 4.2 months (P=.009). Most patients (60/70) were vaccinated with BCG before the diagnosis, 39 of 60 (65%) had complications related to BCG vaccine, and the complication was disseminated in 29 of 39 (74.3%). Less than half of the patients (30, 42.9%) underwent hematopoietic stem cell transplantation (HSCT). Half of the patients died (35, 50%), and 23 of these patients had not undergone HSCT. Disseminated BCG was the cause of death, either alone or in association with other causes, in 9 of 31 cases (29%, no data for 4 cases).Conclusions: In Brazil, diagnosis of SCID has improved over the last decade, both in terms of the number of cases and age at diagnosis, although a much higher number of cases had been expected. Mortality is higher than in developed countries. Complications of BCG vaccine are an important warning sign for the presence of SCID and account for significant morbidity during disease progression.
Keywords Primary immunodeficiency
Severe combined immunodeficiency
BCG vaccine
BCG complications
Mycobacterium bovis
Stem cell transplantation
Language English
Sponsor Jeffrey Modell Foundation
Date 2014-01-01
Published in Journal Of Investigational Allergology And Clinical Immunology. Barcelona: Esmon Publicidad S A, v. 24, n. 3, p. 184-191, 2014.
ISSN 1018-9068 (Sherpa/Romeo, impact factor)
Publisher Esmon Publicidad S A
Extent 184-191
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000339367800007

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