[HTML][HTML] Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE
AK Kienzler, PA van Schouwenburg, J Taylor… - Clinical …, 2016 - Elsevier
Loss-of-function mutations in DOCK8 are linked to hyper-IgE syndrome. Patients typically
present with recurrent sinopulmonary infections, severe cutaneous viral infections, food
allergies and elevated serum IgE. Although patients may present with a spectrum of disease-
related symptoms, molecular mechanisms explaining phenotypic variability in patients are
poorly defined. Here we characterized a novel compound heterozygous mutation in DOCK8
in a patient diagnosed with primary combined immunodeficiency which was not typical of …
present with recurrent sinopulmonary infections, severe cutaneous viral infections, food
allergies and elevated serum IgE. Although patients may present with a spectrum of disease-
related symptoms, molecular mechanisms explaining phenotypic variability in patients are
poorly defined. Here we characterized a novel compound heterozygous mutation in DOCK8
in a patient diagnosed with primary combined immunodeficiency which was not typical of …