Case report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus

BACKGROUND: Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized by defective FAS signaling, which results in chronic, nonmalignant lymphoproliferation and autoimmunity accompanied by increased numbers of “double-negative” T-cells (DNTs) (T-cell receptor αβ+ CD4−CD8−) and a...

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Detalles Bibliográficos
Autores principales: Elgharbawy, Fawzia M., Karim, Mohammed Yousuf, Soliman, Dina Sameh, Hassan, Amel Siddik, Sudarsanan, Anoop, Gad, Ashraf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10159173/
https://www.ncbi.nlm.nih.gov/pubmed/37152306
http://dx.doi.org/10.3389/fped.2023.1150179

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10159173/
https://www.ncbi.nlm.nih.gov/pubmed/37152306
http://dx.doi.org/10.3389/fped.2023.1150179

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