Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper IgE

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper IgE

<p>Highlights: Whole exome sequencing identified the underlying defect in a patient with combined immunodeficiency.</p><p>A novel compound heterozygous DOCK8 mutation was identified.</p><p>Expression of a truncated DOCK8 protein with hypomorphic function was identified....

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Hlavní autoři: Kienzler, A, van Schouwenburg, P, Taylor, J, Marwah, I, Sharma, R, Noakes, C, Thomson, K, Sadler, R, Segal, S, Ferry, B, Blair, E, Chapel, H, Patel, S
Médium: Journal article
Vydáno: Elsevier 2015

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