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.
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.
Authors: Juliana Folloni Fernandes; Samantha Nichele; Liane E Daudt; Rita B Tavares; Adriana Seber; Fábio R Kerbauy; Adriana Koliski; Gisele Loth; Ana K Vieira; Luiz G Darrigo-Junior; Vanderson Rocha; Alessandra A Gomes; Vergílio Colturato; Luiz F Mantovani; Andreza F Ribeiro; Lisandro L Ribeiro; Cilmara Kuwahara; Ana L M Rodrigues; Victor G Zecchin; Beatriz T Costa-Carvalho; Magda Carneiro-Sampaio; Antonio Condino-Neto; Anders Fasth; Andrew Gennery; Ricardo Pasquini; Nelson Hamerschlak; Carmem Bonfim Journal: J Clin Immunol Date: 2018-11-24 Impact factor: 8.317
Authors: Paula T Lyra; Edvaldo Souza; Ana Carla A Moura; Marina C Matta; Leuridan C Torres; Antonio Victor Campos Coelho; Maria Ângela W Rocha; Luiz Arraes; João Bosco Oliveira Journal: J Clin Immunol Date: 2022-07-30 Impact factor: 8.542
Authors: Anderson Dik Wai Luk; Pamela P Lee; Huawei Mao; Koon-Wing Chan; Xiang Yuan Chen; Tong-Xin Chen; Jian Xin He; Nadia Kechout; Deepti Suri; Yin Bo Tao; Yong Bin Xu; Li Ping Jiang; Woei Kang Liew; Orathai Jirapongsananuruk; Tassalapa Daengsuwan; Anju Gupta; Surjit Singh; Amit Rawat; Amir Hamzah Abdul Latiff; Anselm Chi Wai Lee; Lynette P Shek; Thi Van Anh Nguyen; Tek Jee Chin; Yin Hsiu Chien; Zarina Abdul Latiff; Thi Minh Huong Le; Nguyen Ngoc Quynh Le; Bee Wah Lee; Qiang Li; Dinesh Raj; Mohamed-Ridha Barbouche; Meow-Keong Thong; Maria Carmen D Ang; Xiao Chuan Wang; Chen Guang Xu; Hai Guo Yu; Hsin-Hui Yu; Tsz Leung Lee; Felix Yat Sun Yau; Wilfred Hing-Sang Wong; Wenwei Tu; Wangling Yang; Patrick Chun Yin Chong; Marco Hok Kung Ho; Yu Lung Lau Journal: Front Immunol Date: 2017-07-12 Impact factor: 7.561
Authors: Marilia Pyles P Kanegae; Lucila Akune Barreiros; Jusley Lira Sousa; Marco Antônio S Brito; Edgar Borges de Oliveira; Lara Pereira Soares; Juliana Themudo L Mazzucchelli; Débora Quiorato Fernandes; Sonia Marchezi Hadachi; Silvia Maia Holanda; Flavia Alice T M Guimarães; Maura Aparecida P V V Boacnin; Marley Aparecida L Pereira; Joaquina Maria C Bueno; Anete Sevciovic Grumach; Regina Sumiko W Di Gesu; Amélia Miyashiro N Dos Santos; Newton Bellesi; Beatriz T Costa-Carvalho; Antonio Condino-Neto Journal: Rev Paul Pediatr Date: 2017 Jan-Mar