Lymphopenia With Clinical and Laboratory Features of Combined Immune Deficiency in an 11-Year-Old Female With FANCD2 Variants and Fanconi Anemia

Fanconi anemia (FA) is an inherited bone marrow failure and cancer predisposition disorder due to mutations in DNA repair pathways proteins (FANC). The dysfunctional proteins are unable to repair DNA breaks and cause genomic instability. Mutations in many of the 19 FANC genes are well characterized...

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Detalles Bibliográficos
Autores principales: Deniskin, Roman, Sasa, Ghadir S., Nandiwada, Sarada L., Rider, Nicholas L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346677/
https://www.ncbi.nlm.nih.gov/pubmed/30713837
http://dx.doi.org/10.3389/fped.2018.00390

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346677/
https://www.ncbi.nlm.nih.gov/pubmed/30713837
http://dx.doi.org/10.3389/fped.2018.00390

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