Severe Combined Immunodeficiency (SCID): Recent Advances, Ongoing Challenges, and the Need for Global Newborn Screening
Severe Combined Immunodeficiency (SCID): Recent Advances, Ongoing Challenges, and the Need for Global Newborn Screening
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DOI: 10.22533/at.ed.12523041219
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Palavras-chave: Imunodeficiência Combinada Grave, genética, diagnóstico, tratamento, transplante de células-tronco hematopoiéticas, terapia genética, rastreio neonatal.
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Keywords: Severe Combined Immunodeficiency, genetics, diagnosis, treatment, hematopoietic stem cell transplantation, gene therapy, newborn screening.
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Abstract: Severe Combined Immunodeficiency (SCID) is a rare genetic disease, yet of high relevance due to its severity and impact on patients' lives. This article discusses the genetics, clinical presentations, diagnosis, and treatment options for SCID, highlighting recent advances and ongoing challenges. The need for early diagnosis is emphasized, along with the importance of hematopoietic stem cell transplantation and emerging gene therapy as treatment options. The article concludes with the necessity for global implementation of newborn screening for SCID to improve the prognosis and quality of life for affected patients.
- Maria Lívia de Sousa Cunha
- Johnathan Souza Nascimento
- João Pedro do Prado Salomão
- Roberta da Silva Martins
- Larissa de Oliveira Freitas
- Paulo Roberto Hernandes Júnior
- Juliana de Souza Rosa
- Nathan Noronha Fidelis Hernandes
- Louise Guimarães Damaceno Bastos
- Rossy Moreira Bastos Junior
- Paula Pitta de Resende Côrtes
