Type 5 Familial Hemophagocytic Lymphohistiocytosis in a Seven-year-old Girl Post Second Bone Marrow Transplantation with Failure to Thrive: STXBP2 Novel Mutation

Familial hemophagocytic lymphohistiocytosis (HLH) is a fatal autosomal recessive disorder resulting in an exaggerated and ineffective immune response. Genetic defects in familial HLH can lead to the impaired function of the secretory lysosome-dependent exocytosis pathway. We report an STXBP2 homozyg...

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Detalles Bibliográficos
Autores principales: Baothman, Abdullah, Almalki, Hani, Abumelha, Khalid, Alshegifi, Abobaker, Baashar, Abdulrahman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2019
Materias:
Hematology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881083/
https://www.ncbi.nlm.nih.gov/pubmed/31807395
http://dx.doi.org/10.7759/cureus.6246

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881083/
https://www.ncbi.nlm.nih.gov/pubmed/31807395
http://dx.doi.org/10.7759/cureus.6246

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