Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients

Biallelic inactivating mutations in DOCK8 cause a combined immunodeficiency characterized by severe pathogen infections, eczema, allergies, malignancy, and impaired humoral responses. These clinical features result from functional defects in most lymphocyte lineages. Thus, DOCK8 plays a key role in...

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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: Pillay, Bethany A., Avery, Danielle T., Smart, Joanne M., Cole, Theresa, Choo, Sharon, Chan, Damien, Gray, Paul E., Frith, Katie, Mitchell, Richard, Phan, Tri Giang, Wong, Melanie, Campbell, Dianne E., Hsu, Peter, Ziegler, John B., Peake, Jane, Alvaro, Frank, Picard, Capucine, Bustamante, Jacinta, Neven, Benedicte, Cant, Andrew J., Uzel, Gulbu, Arkwright, Peter D., Casanova, Jean-Laurent, Su, Helen C., Freeman, Alexandra F., Shah, Nirali, Hickstein, Dennis D., Tangye, Stuart G., Ma, Cindy S.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6629099/
https://ncbi.nlm.nih.gov/pubmed/31021819
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.127527
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