Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines

Frontiers in Pediatrics

article

Jose Carlo Miguel M. Villanueva¹  Koon-Wing Chan²  Remedios C. Ong¹  Agnes G. Andaya¹  Yu-Lung Lau²  Menno C. van Zelm³  Hirokazu Kanegane⁴ 

[1] Section of Allergy and Clinical Immunology, Department of Pediatrics, University of Santo Tomas Hospital;Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong;Department of Immunology and Pathology, Monash University and Alfred Hospital;Department of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU)

关键词: dedicator of cytokinesis 8;    hyper IgE syndrome;    severe atopic dermatitis;    T-cell deficiency;    warts;   

DOI  :  10.3389/fped.2020.604725

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Hyper IgE syndrome (HIES) encompasses a group of primary immunodeficiency diseases (PIDs) that is characterized by severe atopy, and recurrent infections and markedly elevated serum IgE levels. The majority of HIES cases suffer from autosomal dominant mutations in the signal transducer and activator of transcription 3 gene. A minority of cases display autosomal recessive inheritance, and one form is caused by mutations in the dedicator of cytokinesis 8 ( DOCK8 ) gene. Here we describe the first recognized and diagnosed case of DOCK8 deficiency in the Philippines. A 14 year-old-girl was referred due to recalcitrant atopic dermatitis, recurrent sinopulmonary infections, with widespread warts on the face, trunk and extremities. She had no coarse facial features or retained primary teeth, whereas she presented with widespread viral skin infections and multiple allergic diseases. Laboratory examinations revealed elevations in eosinophil count and serum IgE. The level of T-cell receptor excision circles was undetectable. The patient was suspected to have HIES with a probable DOCK8 deficiency. Genetic analysis disclosed a large genomic deletion involving exons 2-4 in the DOCK8 gene. A combination of recalcitrant atopic dermatitis, asthma, food allergies, with viral skin infections should increase the physician's consideration of a PID. Patients with HIES accompanied by warts and T-cell deficiency can be strongly suspected to have DOCK8 deficiency.

【 授权许可】

CC BY