Hyper ige syndrome associated with novel dock8 heterozygous mutation: а case report

Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive combined immunodeficiency within the spectrum of hyper-IgE syndromes. Here we report a patient with a novel heterozygous mutation in DOCK8 gene associated with a clinical presentation of hyper-IgE syndrome (HIES). A case report....

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Autores principales:	D. V. Osypchuk, A. M. Hilfanova
Formato:	article
Lenguaje:	EN RU UK
Publicado:	Group of Companies Med Expert, LLC 2020
Materias:	hyper-ige syndrome dock8 severe atopic dermatitis omalizumab Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/3b180bfd939a4325a128f056a6d98684
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spelling	oai:doaj.org-article:3b180bfd939a4325a128f056a6d986842021-12-03T13:20:34ZHyper ige syndrome associated with novel dock8 heterozygous mutation: а case report2663-75532706-6134https://doaj.org/article/3b180bfd939a4325a128f056a6d986842020-02-01T00:00:00Zhttp://mpu.med-expert.com.ua/article/view/206707https://doaj.org/toc/2663-7553https://doaj.org/toc/2706-6134Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive combined immunodeficiency within the spectrum of hyper-IgE syndromes. Here we report a patient with a novel heterozygous mutation in DOCK8 gene associated with a clinical presentation of hyper-IgE syndrome (HIES). A case report. The patient presented with severe congenital atopic dermatitis, allergic rhinitis and bronchial asthma which was developed during the 3rd year of life. Also, the patient suffered from recurrent otitis and lymphadenopathy of the inguinal lymph nodes. The immune evaluation showed normal lymphocytes subpopulation and increased serum IgE — 32.131 ІU/L. Genetic sequencing revealed a heterozygous defect c.5266A>T (p.Ile1756Phe) in the DOCK8 gene. Therapy with omalizumab was started and a significant improvement of skin syndrome was achieved. Conclusions. Our data and therapeutic approach may be clinically useful as the diagnostic and treatment approach for severe atopic dermatitis that does not fit the full criteria for previously reported hyper-IgE syndromes. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institution. The informed consent of the child's parents was obtained from the studies.No conflict of interest was declared by the authors.D. V. OsypchukA. M. HilfanovaGroup of Companies Med Expert, LLCarticlehyper-ige syndromedock8severe atopic dermatitisomalizumabPediatricsRJ1-570ENRUUKСучасна педіатрія: Україна, Iss 1(105), Pp 63-65 (2020)
institution	DOAJ
collection	DOAJ
language	EN RU UK
topic	hyper-ige syndrome dock8 severe atopic dermatitis omalizumab Pediatrics RJ1-570
spellingShingle	hyper-ige syndrome dock8 severe atopic dermatitis omalizumab Pediatrics RJ1-570 D. V. Osypchuk A. M. Hilfanova Hyper ige syndrome associated with novel dock8 heterozygous mutation: а case report
description	Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive combined immunodeficiency within the spectrum of hyper-IgE syndromes. Here we report a patient with a novel heterozygous mutation in DOCK8 gene associated with a clinical presentation of hyper-IgE syndrome (HIES). A case report. The patient presented with severe congenital atopic dermatitis, allergic rhinitis and bronchial asthma which was developed during the 3rd year of life. Also, the patient suffered from recurrent otitis and lymphadenopathy of the inguinal lymph nodes. The immune evaluation showed normal lymphocytes subpopulation and increased serum IgE — 32.131 ІU/L. Genetic sequencing revealed a heterozygous defect c.5266A>T (p.Ile1756Phe) in the DOCK8 gene. Therapy with omalizumab was started and a significant improvement of skin syndrome was achieved. Conclusions. Our data and therapeutic approach may be clinically useful as the diagnostic and treatment approach for severe atopic dermatitis that does not fit the full criteria for previously reported hyper-IgE syndromes. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institution. The informed consent of the child's parents was obtained from the studies.No conflict of interest was declared by the authors.
format	article
author	D. V. Osypchuk A. M. Hilfanova
author_facet	D. V. Osypchuk A. M. Hilfanova
author_sort	D. V. Osypchuk
title	Hyper ige syndrome associated with novel dock8 heterozygous mutation: а case report
title_short	Hyper ige syndrome associated with novel dock8 heterozygous mutation: а case report
title_full	Hyper ige syndrome associated with novel dock8 heterozygous mutation: а case report
title_fullStr	Hyper ige syndrome associated with novel dock8 heterozygous mutation: а case report
title_full_unstemmed	Hyper ige syndrome associated with novel dock8 heterozygous mutation: а case report
title_sort	hyper ige syndrome associated with novel dock8 heterozygous mutation: а case report
publisher	Group of Companies Med Expert, LLC
publishDate	2020
url	https://doaj.org/article/3b180bfd939a4325a128f056a6d98684
work_keys_str_mv	AT dvosypchuk hyperigesyndromeassociatedwithnoveldock8heterozygousmutationacasereport AT amhilfanova hyperigesyndromeassociatedwithnoveldock8heterozygousmutationacasereport
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Hyper ige syndrome associated with novel dock8 heterozygous mutation: а case report

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