Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines
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...
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Frontiers Media S.A.
2020-10-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2020.604725/full |
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| author | Jose Carlo Miguel M. Villanueva Koon-Wing Chan Remedios C. Ong Agnes G. Andaya Yu-Lung Lau Menno C. van Zelm Hirokazu Kanegane |
| author_facet | Jose Carlo Miguel M. Villanueva Koon-Wing Chan Remedios C. Ong Agnes G. Andaya Yu-Lung Lau Menno C. van Zelm Hirokazu Kanegane |
| author_sort | Jose Carlo Miguel M. Villanueva |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T05:33:24Z |
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| id | doaj.art-36ee6ab738564432bf7f7f1974b258dd |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-13T05:33:24Z |
| publishDate | 2020-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-36ee6ab738564432bf7f7f1974b258dd2022-12-21T23:58:00ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602020-10-01810.3389/fped.2020.604725604725Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the PhilippinesJose Carlo Miguel M. Villanueva0Koon-Wing Chan1Remedios C. Ong2Agnes G. Andaya3Yu-Lung Lau4Menno C. van Zelm5Hirokazu Kanegane6Section of Allergy and Clinical Immunology, Department of Pediatrics, University of Santo Tomas Hospital, Manila, PhilippinesDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, ChinaSection of Allergy and Clinical Immunology, Department of Pediatrics, University of Santo Tomas Hospital, Manila, PhilippinesSection of Allergy and Clinical Immunology, Department of Pediatrics, University of Santo Tomas Hospital, Manila, PhilippinesDepartment of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, ChinaDepartment of Immunology and Pathology, Monash University and Alfred Hospital, Melbourne, VIC, AustraliaDepartment of Child Health and Development, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, JapanHyper 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.https://www.frontiersin.org/articles/10.3389/fped.2020.604725/fulldedicator of cytokinesis 8hyper IgE syndromesevere atopic dermatitisT-cell deficiencywarts |
| spellingShingle | Jose Carlo Miguel M. Villanueva Koon-Wing Chan Remedios C. Ong Agnes G. Andaya Yu-Lung Lau Menno C. van Zelm Hirokazu Kanegane Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines Frontiers in Pediatrics dedicator of cytokinesis 8 hyper IgE syndrome severe atopic dermatitis T-cell deficiency warts |
| title | Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines |
| title_full | Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines |
| title_fullStr | Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines |
| title_full_unstemmed | Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines |
| title_short | Hyper IgE Syndrome Associated With Warts: A First Case of Dedicator of Cytokinesis 8 Deficiency in the Philippines |
| title_sort | hyper ige syndrome associated with warts a first case of dedicator of cytokinesis 8 deficiency in the philippines |
| topic | dedicator of cytokinesis 8 hyper IgE syndrome severe atopic dermatitis T-cell deficiency warts |
| url | https://www.frontiersin.org/articles/10.3389/fped.2020.604725/full |
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