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Article

Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.

Journal of clinical immunology - 1 Jan 2022

Tangye Stuart G, Gray Paul E, Pillay Bethany A, Yap Jin Yan, Figgett William A, Reeves John, Kummerfeld Sarah K, Stoddard Jennifer, Uzel Gulbu, Jing Huie, Su Helen C, Campbell Dianne E, Sullivan Anna, Burnett Leslie, Peake Jane, Ma Cindy S

Abstract excerpt

Rare, biallelic loss-of-function mutations in DOCK8 result in a combined immune deficiency characterized by severe and recurrent cutaneous infections, eczema, allergies, and susceptibility to malignancy, as well as impaired humoral and cellular immunity and hyper-IgE. The advent of next-generation sequencing technologies has enabled the rapid molecular diagnosis of rare monogenic diseases, including inborn errors...

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Identifiers

PMID: 34657245
DOI: 10.1007/s10875-021-01152-x
PMCID: PMC10461790

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