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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Vydáno v:JCI Insight
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2019
Témata:
Research Article
On-line přístup: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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