Autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency: an adjunctive role for omalizumab

Kim Han Nguyen; Quynh Anh Nguyen; Mai Hoang Tran; Thu Thuy Can; Mai Thi Vu; Nam Sy Vo; Hieu Chu Chi; Sheryl van Nunen; Dinh Van Nguyen

doi:10.1002/cia2.12273

Autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency: an adjunctive role for omalizumab

Kim Han Nguyen, Quynh Anh Nguyen, Mai Hoang Tran, Thu Thuy Can, Mai Thi Vu, Nam Sy Vo, Hieu Chu Chi, Sheryl van Nunen, Dinh Van Nguyen^*

^*Corresponding author for this work

Macquarie Medical School

Research output: Contribution to journal › Article › peer-review

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Abstract

Autosomal recessive hyper-IgE syndrome (AR-HIES) is a rare primary immunodeficiency disorder characterized by high serum IgE levels, recurrent viral skin infections, severe allergies, and early-onset malignancies, associated with mutations in the gene encoding the dedicator of cytokinesis 8 protein (DOCK8). We report a rare case of AR-HIES with DOCK8 deficiency in a young Japanese male with a past medical history of chronic atopic dermatitis, severe food allergies, and severe herpes simplex virus infection. Treatment was successfully based on infection management, skincare, and dietary elimination. In addition, anti-IgE therapy with omalizumab was the target treatment for this syndrome.

Original language	English
Pages (from-to)	222-226
Number of pages	5
Journal	Journal of Cutaneous Immunology and Allergy
Volume	5
Issue number	6
DOIs	https://doi.org/10.1002/cia2.12273
Publication status	Published - Dec 2022

Bibliographical note

Copyright the Author(s) 2022. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

Keywords

AR-HIES
DOCK8 deficiency
immunodeficiency disorder
omalizumab
recurrent viral infection

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Publisher version (open access)Final published version, 1.09 MBLicence: CC BY-NC

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title = "Autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency: an adjunctive role for omalizumab",

abstract = "Autosomal recessive hyper-IgE syndrome (AR-HIES) is a rare primary immunodeficiency disorder characterized by high serum IgE levels, recurrent viral skin infections, severe allergies, and early-onset malignancies, associated with mutations in the gene encoding the dedicator of cytokinesis 8 protein (DOCK8). We report a rare case of AR-HIES with DOCK8 deficiency in a young Japanese male with a past medical history of chronic atopic dermatitis, severe food allergies, and severe herpes simplex virus infection. Treatment was successfully based on infection management, skincare, and dietary elimination. In addition, anti-IgE therapy with omalizumab was the target treatment for this syndrome.",

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doi = "10.1002/cia2.12273",

language = "English",

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T1 - Autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency

T2 - an adjunctive role for omalizumab

AU - Nguyen, Kim Han

AU - Nguyen, Quynh Anh

AU - Tran, Mai Hoang

AU - Can, Thu Thuy

AU - Vu, Mai Thi

AU - Vo, Nam Sy

AU - Chi, Hieu Chu

AU - van Nunen, Sheryl

AU - Van Nguyen, Dinh

N1 - Copyright the Author(s) 2022. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

PY - 2022/12

Y1 - 2022/12

N2 - Autosomal recessive hyper-IgE syndrome (AR-HIES) is a rare primary immunodeficiency disorder characterized by high serum IgE levels, recurrent viral skin infections, severe allergies, and early-onset malignancies, associated with mutations in the gene encoding the dedicator of cytokinesis 8 protein (DOCK8). We report a rare case of AR-HIES with DOCK8 deficiency in a young Japanese male with a past medical history of chronic atopic dermatitis, severe food allergies, and severe herpes simplex virus infection. Treatment was successfully based on infection management, skincare, and dietary elimination. In addition, anti-IgE therapy with omalizumab was the target treatment for this syndrome.

AB - Autosomal recessive hyper-IgE syndrome (AR-HIES) is a rare primary immunodeficiency disorder characterized by high serum IgE levels, recurrent viral skin infections, severe allergies, and early-onset malignancies, associated with mutations in the gene encoding the dedicator of cytokinesis 8 protein (DOCK8). We report a rare case of AR-HIES with DOCK8 deficiency in a young Japanese male with a past medical history of chronic atopic dermatitis, severe food allergies, and severe herpes simplex virus infection. Treatment was successfully based on infection management, skincare, and dietary elimination. In addition, anti-IgE therapy with omalizumab was the target treatment for this syndrome.

KW - AR-HIES

KW - DOCK8 deficiency

KW - immunodeficiency disorder

KW - omalizumab

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JO - Journal of Cutaneous Immunology and Allergy

JF - Journal of Cutaneous Immunology and Allergy

IS - 6

ER -

Autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency: an adjunctive role for omalizumab

Abstract

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Keywords

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