antibioticsАнтибиотики и ХимиотерапияAntibiot Khimioter = Antibiotics and Chemotherapy0235-2990ООО «Издательство ОКИ»10.37489/0235-2990-2024-69-9-10-56-60HNYAYHantibiotics-1186Research ArticleКЛИНИЧЕСКИЕ ИССЛЕДОВАНИЯ И ПРАКТИКАGUIDELINES FOR PRACTITIONERSСлучай врождённого комбинированного иммунодефицита с тяжёлой атопией: целесообразность ранней диагностики и особенности терапевтических стратегийThe Case of Congenital Combined Immunodeficiency with Severe Atopy: The Importance of Early Diagnosis and Features of Therapeutic Strategieshttps://orcid.org/0000-0002-4692-4802СеребряковаЕ. Н.SerebryakovaE. N.

Серебрякова Елена Николаевна — д. м. н., доцент, профессор кафедры госпитальной педиатрии

ResearcherID: ABG-8330-2021. eLIBRARY; Scopus Author ID: 36020648000

Челябинск 

Elena N. Serebryakova — D. Sc. in Medicine, Associate Professor, Professor of the Department of Hospital Pediatrics

ResearcherID: ABG-8330-2021 ; Scopus Author ID: 36020648000

Chelyabinsk 

doctor-hit@yandex.ruhttps://orcid.org/0000-0001-9826-9654ШиловаТ. В.ShilovaT. V.

Шилова Татьяна Васильевна 

Scopus Author ID: 57211799427 

Челябинск 

Tatiana V. Shilova 

Scopus Author ID: 57211799427 

Chelyabinsk 

https://orcid.org/0009-0008-5400-3043КожевниковА. С.KozhevnikovA. S.

Кожевников Артем Сергеевич 

ResearcherID: RID72103 ;  Scopus Author ID: 58103491300 

Челябинск 

Artem S. Kozhevnikov  

ResearcherID: RID72103 ; Scopus Author ID: 58103491300

Chelyabinsk 

https://orcid.org/0009-0001-4031-2821РазживинА. М.RazzhivinA. M.

Разживин Артем Михайлович  

ResearcherID: LIF-4379-2024 

Челябинск 

Artem M. Razzhivin 

ResearcherID: LIF-4379-2024 

Chelyabinsk 

ФГБОУ ВО Южно-Уральский государственный медицинский университет Минздрава России ; Челябинская областная детская клиническая больницаРоссияSouth Ural State Medical University of the Ministry of Health of the Russian Federation ; Chelyabinsk Regional Children's Clinical HospitalRussian Federation202425102024699-105660Copyright © Серебрякова Е.Н., Шилова Т.В., Кожевников А.С., Разживин А.М., 20252025Серебрякова Е.Н., Шилова Т.В., Кожевников А.С., Разживин А.М.Serebryakova E.N., Shilova T.V., Kozhevnikov A.S., Razzhivin A.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.antibiotics-chemotherapy.ru/jour/article/view/1186

В статье представлено описание случая врождённого комбинированного иммунодефицита с тяжёлой атопией — дефицита регулятора цитогенеза (DOCK8). В статье рассматриваются современные представления о роли белка DOCK8 в обеспечении основных функций иммунной системы, следствиях потери функции белка DOCK8, эпидемиологии, клинических проявлениях, современных принципах диагностики и лечения дефицита DOCK8.

The article describes a case of congenital combined immunodeficiency with severe atopy – deficiency of the cytogenesis regulator (DOCK8) The article examines modern ideas about the role of DOCK8 protein in ensuring the basic functions of the immune system, the consequences of loss of function of DOCK8 protein, epidemiology, clinical manifestations, modern principles of diagnosis and treatment of DOCK8 deficiency.

дефицит DOCK8врождённый иммунодефицитдиагностикаклинические проявлениялечениеDOCK8 deficiencycongenital immunodeficiencydiagnosisclinical manifestationstreatmentReferencesRavendran S., Hernández S. S., König S., Bak R. O. CRISPR/Cas-Based Gene Editing Strategies for DOCK8 Immunodeficiency Syndrome. Front Genome Ed. 2022 Mar 17;4:793010. doi: 10.3389/fgeed.2022.793010.Ravendran S., Hernández S. S., König S., Bak R. O. CRISPR/Cas-Based Gene Editing Strategies for DOCK8 Immunodeficiency Syndrome. Front Genome Ed. 2022 Mar 17;4:793010. doi: 10.3389/fgeed.2022.793010.Liquidano-Pérez E., Maza-Ramos G., Yamazaki- Nakashimada M. A., Barragán-Arévalo T., Lugo- Reyes S. O., Scheffler-Mendoza S., EspinosaPadilla S. E., González- Serrano M. E. Combined immunodeficiency due to DOCK8 deficiency. State of the art. Rev Alerg Mex. 2022 Jul 1; 69 (1): 31–47. Spanish. doi: 10.29262/ram.v69i1.1104.Liquidano-Pérez E., Maza-Ramos G., Yamazaki- Nakashimada M. A., Barragán-Arévalo T., Lugo- Reyes S. O., Scheffler-Mendoza S., EspinosaPadilla S. E., González- Serrano M. E. Combined immunodeficiency due to DOCK8 deficiency. State of the art. Rev Alerg Mex. 2022 Jul 1; 69 (1): 31–47. Spanish. doi: 10.29262/ram.v69i1.1104.Momtazmanesh S., Rayzan E., Zoghi S., Shahkarami S., Molatefi R., Mohammadzadeh I., Ghaffari J., Mahmoudi H., Dmytrus J., Segarra-Roca A., Somekh I., Witzel M., Hauck F., Boztug K., Klein C., Rezaei N. Novel variants of DOCK8 deficiency in a case series of iranian patients. endocr metab immune disord drug targets. 2022; 22 (1): 159–168. doi: 10.2174/1871530321666210226143912.Momtazmanesh S., Rayzan E., Zoghi S., Shahkarami S., Molatefi R., Mohammadzadeh I., Ghaffari J., Mahmoudi H., Dmytrus J., Segarra-Roca A., Somekh I., Witzel M., Hauck F., Boztug K., Klein C., Rezaei N. Novel variants of DOCK8 deficiency in a case series of iranian patients. endocr metab immune disord drug targets. 2022; 22 (1): 159–168. doi: 10.2174/1871530321666210226143912.Ollech A., Mashiah J., Lev A., Simon A. J., Somech R., Adam E., Barzilai A., Hagin D., Greenberger S. Treatment options for DOCK8 deficiencyrelated severe dermatitis. J Dermatol. 2021 Sep; 48 (9): 1386–1393. doi: 10.1111/1346-8138.15955.Ollech A., Mashiah J., Lev A., Simon A. J., Somech R., Adam E., Barzilai A., Hagin D., Greenberger S. Treatment options for DOCK8 deficiencyrelated severe dermatitis. J Dermatol. 2021 Sep; 48 (9): 1386–1393. doi: 10.1111/1346-8138.15955.Silbert S., Cole K., Bedoya S. Z., Freeman A. F., Whangbo J. S., Avila D. N., Su HC, Yates B., Epstein M., Wendler D. S., Pai S. Y., Hickstein D. D., Wiener L., Shah N. N. Tandem hematopoietic stem cell transplant considerations in families with multiple siblings affected by DOCK8 deficiency. Bone Marrow Transplant. 2022 Nov; 57 (11): 1721–1723. doi: 10.1038/s41409-022-01778-4.Silbert S., Cole K., Bedoya S. Z., Freeman A. F., Whangbo J. S., Avila D. N., Su HC, Yates B., Epstein M., Wendler D. S., Pai S. Y., Hickstein D. D., Wiener L., Shah N. N. Tandem hematopoietic stem cell transplant considerations in families with multiple siblings affected by DOCK8 deficiency. Bone Marrow Transplant. 2022 Nov; 57 (11): 1721–1723. doi: 10.1038/s41409-022-01778-4.Sams L., Wijetilleka S., Ponsford M., Gennery A., Jolles S. Atopic manifestations of inborn errors of immunity. Curr Opin Allergy Clin Immunol. 2023 Dec 1; 23 (6): 478–490. doi: 10.1097/ACI.0000000000000943.Sams L., Wijetilleka S., Ponsford M., Gennery A., Jolles S. Atopic manifestations of inborn errors of immunity. Curr Opin Allergy Clin Immunol. 2023 Dec 1; 23 (6): 478–490. doi: 10.1097/ACI.0000000000000943.Gracci S., Novelli T., D'Elios S, Bernardini R., Peroni D. Hyper IgE syndromes. Curr Pediatr Rev. 2024; 20 (3): 253–264. doi: 10.2174/1573396320666230912103124.Gracci S., Novelli T., D'Elios S, Bernardini R., Peroni D. Hyper IgE syndromes. Curr Pediatr Rev. 2024; 20 (3): 253–264. doi: 10.2174/1573396320666230912103124.Kasap N., Kara A., Celik V., Bilgic Eltan S., Akay Haci I., Kose H., Aygun A., Akkelle E., Yakici N., Guner S. N., Reisli I., Keles S., Cekic S., Kilic S. S., Karaca N. E., Gulez N., Genel F., Ozen A., Yucelten A. D., Karakoc-Aydiner E., Schmitz-Abe K., Baris S. Atypical localization of eczema discriminates DOCK8 or stat3 deficiencies from atopic dermatitis. J Clin Immunol. 2023 Nov; 43 (8): 1882–1890. doi: 10.1007/s10875-023-01554-z.Kasap N., Kara A., Celik V., Bilgic Eltan S., Akay Haci I., Kose H., Aygun A., Akkelle E., Yakici N., Guner S. N., Reisli I., Keles S., Cekic S., Kilic S. S., Karaca N. E., Gulez N., Genel F., Ozen A., Yucelten A. D., Karakoc-Aydiner E., Schmitz-Abe K., Baris S. Atypical localization of eczema discriminates DOCK8 or stat3 deficiencies from atopic dermatitis. J Clin Immunol. 2023 Nov; 43 (8): 1882–1890. doi: 10.1007/s10875-023-01554-z.Tangye S. G., Gray P. E., Pillay B. A., Yap J. Y., Figgett W. A., Reeves J., Kummerfeld S. K., Stoddard J., Uzel G., Jing H., Su H. C., Campbell D. E., Sullivan A., Burnett L., Peake J., Ma C. S. Hyper-IgE syndrome due to an elusive novel intronic homozygous variant in DOCK8. J Clin Immunol. 2022 Jan; 42 (1): 119–129. doi: 10.1007/s10875-021-01152-x.Tangye S. G., Gray P. E., Pillay B. A., Yap J. Y., Figgett W. A., Reeves J., Kummerfeld S. K., Stoddard J., Uzel G., Jing H., Su H. C., Campbell D. E., Sullivan A., Burnett L., Peake J., Ma C. S. Hyper-IgE syndrome due to an elusive novel intronic homozygous variant in DOCK8. J Clin Immunol. 2022 Jan; 42 (1): 119–129. doi: 10.1007/s10875-021-01152-x.Shakerian L., Nourizadeh M., Badalzadeh M., Fazlollahi M. R., Shokouhi Shoormasti R., Saghafi S., Esmaeili B., Alizadeh Z., Borte S., Houshmand M., Hammarström L., Pourpak Z. Investigating the variation of TREC/KREC in combined immunodeficiencies. Iran J Allergy Asthma Immunol. 2021 Aug 7; 20 (4): 402–412.Shakerian L., Nourizadeh M., Badalzadeh M., Fazlollahi M. R., Shokouhi Shoormasti R., Saghafi S., Esmaeili B., Alizadeh Z., Borte S., Houshmand M., Hammarström L., Pourpak Z. Investigating the variation of TREC/KREC in combined immunodeficiencies. Iran J Allergy Asthma Immunol. 2021 Aug 7; 20 (4): 402–412.Dasouki M., Jabr A., AlDakheel G., Elbadaoui F., Alazami A. M., AlSaud B., Arnaout R., Aldhekri H., Alotaibi I., Al-Mousa H., Hawwari A. TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity. Clin Exp Immunol. 2020 Oct; 202 (1): 60–71. doi: 10.1111/cei.13484.Dasouki M., Jabr A., AlDakheel G., Elbadaoui F., Alazami A. M., AlSaud B., Arnaout R., Aldhekri H., Alotaibi I., Al-Mousa H., Hawwari A. TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity. Clin Exp Immunol. 2020 Oct; 202 (1): 60–71. doi: 10.1111/cei.13484.

The authors declare that there are no conflicts of interest present.