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

Authors

  • D. V. Osypchuk SI «Institute of Pediatrics, Obstetrics and Gynecology named after academician O. Lukyanova of the National Academy of Medical Sciences of Ukraine», Kyiv, Ukraine
  • A. M. Hilfanova Shupyk National Medical Academy for Postgraduate Education, Kyiv, Ukraine, Ukraine

Keywords:

hyper-IgE syndrome, DOCK8, severe atopic dermatitis, omalizumab

Abstract

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.

References

Dinetz S, Wray BB. (2016). Case Report of a Previously Unreported Type of DOCK8 Deficiency. J Allergy Clin Immunol. 137: 393. https://doi.org/10.1016/j.jaci.2015.12.1220

Hansra D, Cioffi-Lavina M, Granada H, McIntyre B et al. (2017). Rare Case of Adult Onset DOCK8 Mutated Hyper Ige Syndrome. Blood. 130: 4825.

Su HC, Jing H, Angelus P, Freeman AF. (2019). Insights into immunity from clinical and basic science studies of DOCK8 immunodeficiency syndrome. Immunol. Rev. 287: 9—19. https://doi.org/10.1111/imr.12723; PMid:30565250 PMCid:PMC6350515

Zhang Q, Davis JC, Lamborn IT, Freeman AF et al. (2009). Combined Immunodeficiency Associated with DOCK8 Mutations. N Engl J Med. 361(21): 2046–2055. https://doi.org/10.1056/NEJMoa0905506; PMid:19776401 PMCid:PMC2965730

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Issue

No. 1(105) (2020): Modern pediatrics. Ukraine

Section

Clinical case

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