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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| Format: | Article |
| Language: | English |
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Group of Companies Med Expert, LLC
2020-02-01
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| Series: | Сучасна педіатрія: Україна |
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| Online Access: | http://mpu.med-expert.com.ua/article/view/206707 |
| _version_ | 1818574512477700096 |
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| author | D. V. Osypchuk A. M. Hilfanova |
| author_facet | D. V. Osypchuk A. M. Hilfanova |
| author_sort | D. V. Osypchuk |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-15T00:27:37Z |
| format | Article |
| id | doaj.art-3b180bfd939a4325a128f056a6d98684 |
| institution | Directory Open Access Journal |
| issn | 2663-7553 2706-6134 |
| language | English |
| last_indexed | 2024-12-15T00:27:37Z |
| publishDate | 2020-02-01 |
| publisher | Group of Companies Med Expert, LLC |
| record_format | Article |
| series | Сучасна педіатрія: Україна |
| spelling | doaj.art-3b180bfd939a4325a128f056a6d986842022-12-21T22:42:07ZengGroup of Companies Med Expert, LLCСучасна педіатрія: Україна2663-75532706-61342020-02-011(105)6365194770Hyper ige syndrome associated with novel dock8 heterozygous mutation: а case reportD. V. Osypchuk0A. M. Hilfanova1SI «Institute of Pediatrics, Obstetrics and Gynecology named after academician O. Lukyanova of the National Academy of Medical Sciences of Ukraine», KyivShupyk National Medical Academy for Postgraduate Education, Kyiv, UkraineDedicator 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.http://mpu.med-expert.com.ua/article/view/206707hyper-ige syndromedock8severe atopic dermatitisomalizumab |
| spellingShingle | D. V. Osypchuk A. M. Hilfanova Hyper ige syndrome associated with novel dock8 heterozygous mutation: а case report Сучасна педіатрія: Україна hyper-ige syndrome dock8 severe atopic dermatitis omalizumab |
| title | 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_short | 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 |
| topic | hyper-ige syndrome dock8 severe atopic dermatitis omalizumab |
| url | http://mpu.med-expert.com.ua/article/view/206707 |
| work_keys_str_mv | AT dvosypchuk hyperigesyndromeassociatedwithnoveldock8heterozygousmutationacasereport AT amhilfanova hyperigesyndromeassociatedwithnoveldock8heterozygousmutationacasereport |