Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE
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- 作者：Anne-Kathrin Kienzlera ; b ; anne-kathrin.kienzler@ndm.ox.ac.uk" class="auth_mail" title="E-mail the corresponding author ; Pauline A. van Schouwenburga ; b ; John Taylorc ; Ishita Marwaha ; b ; Richa U. Sharmaa ; b ; Charlotte Noakesc ; Kate Thomsonc ; Ross Sadlerd ; Shelley Segale ; Berne Ferryd ; Jenny C. Taylorf ; Edward Blairg ; Helen Chapela ; b ; Smita Y. Patela ; b
- 关键词：CFSE ; Carboxyfluorescein diacetate ; succinimidyl ester ; DHR1/2 ; DOCK homology region ; DOCK8 ; Dedicator of cytokinesis 8 ; EBV ; Epstein&ndash ; Barr-Virus ; HC ; Healthy control ; Mut ; Mutated DOCK8 transcript (referring to c.6019dupT) ; PBMC ; Peripheral blood mononuclear cell ; PHA ; Phytohemagglutinin ; Pt ; Patient ; Trunc ; Truncated DOCK8 protein
- 刊名：Clinical Immunology
- 出版年：2016
- 出版时间：February 2016
- 年：2016
- 卷：163
- 期：Complete
- 页码：17-21
- 全文大小：699 K
文摘
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Whole exome sequencing identified the underlying defect in a patient with combined immunodeficiency.
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A novel compound heterozygous DOCK8 mutation was identified.
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Expression of a truncated DOCK8 protein with hypomorphic function was identified.
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Somatic reversion of DOCK8 mainly in T cells was identified.
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DOCK8 deficiency may present without severe viral infections and increased serum IgE levels.