Articles with "function somatic" as a keyword



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Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis

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Published in 2021 at "Frontiers in Immunology"

DOI: 10.3389/fimmu.2021.673487

Abstract: DOCK8 deficiency is a combined immunodeficiency due to biallelic variants in dedicator of cytokinesis 8 (DOCK8) gene. The disease has a wide clinical spectrum encompassing recurrent infections (candidiasis, viral and bacterial infections), virally driven malignancies… read more here.

Keywords: reversion dock8; somatic reversion; function somatic; hypomorphic function ... See more keywords