Hyper-IgE syndromes (HIES) are characterized by skin abscesses, increased serum IgE, eczema, and recurrent pneumonias. The most common autosomal recessive (AR) HIES are homozygous dedicator of cytokinesis 8 (DOCK8) loss-of-function mutations. These patients develop atopic diseases and cannot control cutaneous infections. While AR homozygous HIES DOCK8-deficiency clinical information has increased, little is known about the impact of DOCK8 heterozygous mutations. We describe a 10y male with a novel heterozygous point mutation in the DOCK8 region at c.624-12 T>A. He initially presented at 6m with eczema, acute urticaria, potential asthma, and total IgE of 190 kU/L. Around 3y, he developed specific IgE food and environmental sensitivities and dermatitis flares, later complicated by cutaneous fungal infection. He had 3 hospitalizations for severe eczema herpeticum and MRSA skin infections. At 5y, his eosinophil count was 1.6x10 3 /mm 3 with total IgE 15,828 kU/L. To avoid future hospitalization, he was prescribed antibiotic and antiviral prophylaxis and placed on an IgE sensitivity-guided elimination diet. At age 7y, he was referred to the National Institutes of Health (NIH) for further evaluation. In the past few years, his eczema has improved, he has ongoing evidence for IgE sensitivities, and possible asthma. His absolute eosinophil count and total IgE levels have decreased, possibly related to avoidance measures. The clinical significance of heterozygous mutations in the DOCK8 region has not been described previously. This case underscores the potential importance of non-homozygous mutations. Analysis of simple and complex heterozygous mutations may improve our understanding of DOCK8 genetic variants. LB925 Non-invasive gene-expression analysis of cutaneous T-cell lymphoma
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