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

Journal of Investigational Allergology and Clinical Immunology

BT Costa-Carvalho⁹  MMS Vilela^2,23  E Toledo^1,11  FS Tavares⁴  OA Takano⁵  A Seber^1,10  VEV Rullo⁶  M Ruiz⁶  P Roxo-Junior^1,17  AC Porto-Neto^1,18  MCV Rizzo^1,15  JA Pinto⁷  V Nudelman²  LSL Moraes⁵  FP Monteiro^2,22  MC Mallozzi^2,20  G Kuntze^1,16  LMB Guirau¹  AS Grumach^2,20  E Goudouris^2,21  HC Goes⁸  JF Fernandes²  MI de Moraes-Pinto⁹  VM Dantas^1,13  EO Dantas^1,19  L Cunha⁷  NMX Costa³  A Condino-Neto A^1,12  G Castro G^1,14  C Bonfim^2,24  JTL Mazzucchelli⁹ 

[1] Darcy Vargas Children’s Hospital, São Paulo, Brazil;Albert Einstein Hospital, São Paulo, Brazil;Pontifical Catholic University of Goiás, Goiás, Brazil;Base Hospital, Distrito Federal, Brazil;Federal University of Mato Grosso, Mato Grosso, Brazil;Medical School of Centro Universitario Lusíada, Santos, São Paulo, Brazil;Federal University of Minas Gerais, Minas Gerais, Brazil;Private Office, Macapá, Amapá, Brazil;Department of Pediatrics, Federal University of São Paulo, São Paulo, Brazil;Institute of Pediatric Oncology, GRAAC, Federal University of São Paulo, São Paulo, Brazil;S. Jose do Rio Preto Medical School, São Paulo, Brazil;Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil;Federal University of Rio Grande do Norte, Rio Grande do Norte, Brazil;Federal University of Bahia, Bahía, Brazil;Menino Jesus Hospital, São Paulo, Brazil;Vidas Hospital, São Paulo, Brazil;Faculty of Medicine of Ribeirão Preto, University of Sao Paulo, São Paulo, Brazil;University of Passo Fundo, Rio Grande do Sul, Brazil;Diadema Hospital, São Paulo, Brazil;Faculty of Medicine of ABC, Santo André, Brazil;Federal University of Rio de Janeiro, Rio de Janeiro, Brazil;Asa Sul Regional Hospital, Distrito Federal, Brazil;Faculty of Medical Sciences, University of Campinas, São Paulo, Brazil;Bone Marrow Transplant Unit, Federal University of Paraná, Paraná, Brazil

关键词: Stem cell transplantation;    Mycobacterium bovis;    BCG complications;    BCG vaccine;    Severe combined immunodeficiency;    Primary immunodeficiency;   

Others  :  1183704

【 摘 要 】

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.