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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:JCI Insight
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Clinical Investigation 2019
Pynciau:
Research Article
Mynediad Ar-lein: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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