Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis
Sign Up to like & getrecommendations! 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