SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience

Author(s):Show less -

Barreiros, Lucila Akune ; Sousa, Jusley Lira ; Geier, Christoph ; Leiss-Piller, Alexander ; Pylles Patto Kanegae, Marilia ; Franca, Tabata Takahashi ; Boisson, Bertrand ; Lima, Alessandra Miramontes ; Tavares Costa-Carvalho, Beatriz ; Aranda, Carolina Sanchez ; de Moraes-Pinto, Maria Isabel ; Silva Segundo, Gesmar Rodrigues ; Fernandes Severo Ferreira, Janaira ; Tavares, Fabiola Scancetti ; Timburiba de Medeiros Guimaraes, Flavia Alice ; Toledo, Eliana Cristina ; da Matta Ain, Ana Carolina ; Moreira, Iramirton Figueiredo ; Soldatelli, Gustavo ; Grumach, Anete Sevciovic ; Dorna, Mayra de Barros ; Weber, Cristina Worm ; Watanabe Di Gesu, Regina Sumiko ; Dantas, Vera Maria ; Fernandes, Fatima Rodrigues ; Torgerson, Troy Robert ; Ochs, Hans Dietrich ; Bustamante, Jacinta ; Walter, Jolan Eszter ; Condino-Neto, Antonio

• Document type: Journal article
• Source: JOURNAL OF CLINICAL IMMUNOLOGY; v. N/A, p. 22-pg., 2022-05-03.

Abstract

Severe combined immunodeficiency, SCID, is a pediatric emergency that represents the most critical group of inborn errors of immunity (IEI). Affected infants present with early onset life-threatening infections due to absent or non-functional T cells. Without early diagnosis and curative treatment, most die in early infancy. As most affected infants appear healthy at birth, newborn screening (NBS) is essential to identify and treat patients before the onset of symptoms. Here, we report 47 Brazilian patients investigated between 2009 and 2020 for SCID due to either a positive family history and/or clinical impression and low TRECs. Based on clinical presentation, laboratory finding, and genetic information, 24 patients were diagnosed as typical SCID, 14 as leaky SCID, and 6 as Omenn syndrome; 2 patients had non-SCID IEI, and 1 remained undefined. Disease onset median age was 2 months, but at the time of diagnosis and treatment, median ages were 6.5 and 11.5 months, respectively, revealing considerable delay which affected negatively treatment success. While overall survival was 51.1%, only 66.7% (30/45) lived long enough to undergo hematopoietic stem-cell transplantation, which was successful in 70% of cases. Forty-three of 47 (91.5%) patients underwent genetic testing, with a 65.1% success rate. Even though our patients did not come from the NBS programs, the diagnosis of SCID improved in Brazil during the pilot programs, likely due to improved medical education. However, we estimate that at least 80% of SCID cases are still missed. NBS-SCID started to be universally implemented in the city of Sao Paulo in May 2021, and it is our hope that other cities will follow, leading to early diagnosis and higher survival of SCID patients in Brazil. (AU)

• FAPESP's process: 18/09407-0 - Imunnogenetic basis of susceptibility to Zika Virus infection in humans
• Grantee: Lucila Akune Barreiros
• Support Opportunities: Scholarships in Brazil - Doctorate
• FAPESP's process: 16/22158-3 - Molecular genetic mechanisms of primary immunodeficiencies
• Grantee: Antonio Condino Neto
• Support Opportunities: Research Projects - Thematic Grants