Job’s syndrom. Case reports

封面

如何引用文章

全文:

详细

Primary immunodeficiencies with impaired humoral link are genetically determined diseases characterized by impaired antibody formation. The article presents information about an orphan disease – hyperimmunoglobulinemia E syndrome (hyper-IgE), or Job’s syndrome, which is characterized by elevated IgE levels in the blood serum, recurrent infections and various clinical manifestations (specific abnormalities of connective tissue, skeleton, tooth enamel, neurological disorders, etc.). Historical aspects of Job’s syndrome are described, the importance of immunoglobulins E in the human immune system is shown. It is noted that genetic testing, including sequencing of the STAT3 and DOCK8 genes, plays a decisive role in confirming the diagnosis. Low prevalence of Job’s syndrome is the reason for late diagnosis. Clinical cases of Job’s syndrome, a variant of primary immunodeficiency confirmed genetically, are presented.

全文:

受限制的访问

作者简介

Irina Zakharova

Russian Medical Academy of Continuous Professional Education

Email: zakharova-rmapo@yandex.ru
ORCID iD: 0000-0003-4200-4598

D. Sci. (Med.), Prof.

俄罗斯联邦, Moscow

Narine Sugian

Russian Medical Academy of Continuous Professional Education; Khimki Hospital

编辑信件的主要联系方式.
Email: narine6969@mail.ru
ORCID iD: 0000-0002-2861-5619

Cand. Sci. (Med.)

俄罗斯联邦, Moscow; Khimki

Irina Berezhnaya

Russian Medical Academy of Continuous Professional Education

Email: narine6969@mail.ru
ORCID iD: 0000-0002-2847-6268

Cand. Sci. (Med.)

俄罗斯联邦, Moscow

Viktoria Pupykina

Russian Medical Academy of Continuous Professional Education

Email: vika-pupykina@mail.ru
ORCID iD: 0000-0003-2181-8138

Graduate Student

俄罗斯联邦, Moscow

参考

  1. Щербина А.Ю. Первичные иммунодефициты – реалии XXI в. Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016;15(1):8-9 [Shcherbina AYu. Primary immunodeficiencies: Realities of the 21st century. Pediatric Hematology/Oncology and Immunopathology. 2016;15(1):8-9 (in Russian)]. doi: 10.24287/1726-1708-2016-15-1-8-9
  2. Алексеева Е.Н., Беседина М.В., Зайцева О.В., и др. Клинический случай синдрома Иова у грудного ребенка. Педиатрическая фармакология. 2022;19(2):115-8 [Alexeeva EN, Besedina MV, Zaytseva OV, et al. Clinical Case of Job Syndrome in Infant. Pediatric Pharmacology. 2022;19(2):115-8 (in Russian)]. doi: 10.15690/pf.v19i2.2402
  3. Хаитов Р.М., Пинегин Б.В., Ярилин А.А. Руководство по клинической иммунологии. М.: ГЭОТАР-Медиа, 2009 [Khaitov RM, Pinegin BV, Iarilin AA. Rukovodstvo po klinicheskoi immunologii. Moscow: GEOTAR-Media, 2009 (in Russian)].
  4. Стефани Д.В., Вельтищев Ю.Е. Клиническая иммунология и иммунопатология детского возраста. Руководство для врачей. М.: Медицина, 1996 [Stefani DV, Vel’tishchev IuE. Klinicheskaia immunologiia i immunopatologiia detskogo vozrasta. Rukovodstvo dlia vrachei. Moscow: Meditsina, 1996 (in Russian)].
  5. Jensen RK, Jabs F, Miehe M, et al. Structure of intact IgE and the mechanism of ligelizumab revealed by electron microscopy. Allergy. 2020;75(8):1956-65. doi: 10.1111/all.14222
  6. «The Book of Job». Encyclopedia Britannica. Available at: https://www.britannica.com/topic/The-Book-of-Job. Accessed: 27.06.2024.
  7. Davis SD, Schaller J, Wedgwood RJ. Job’s Syndrome. Recurrent, «cold», staphylococcal abscesses. Lancet. 1966;1(7445):1013-5. doi: 10.1016/s0140-6736(66)90119-x
  8. Ярцев М.Н., Плахтиенко М.В. Гипер-IgE синдром. История болезни (от синдрома Иова до дефекта STAT3 гена). Российский аллергологический журнал. 2009;4:46-52 [Yartsev MN, Plakhtienko MV, Yartsev MN, Plahtienko MV. Hyper-IgE syndrome. The history of disease (from Job’s syndrome to defect STAT3 gene). Russian Journal of Allergy. 2009;6(4):46-52 (in Russian)]. doi: 10.36691/RJA1049
  9. Hill HR, Ochs HD, Quie PG, et al. Defect in neutrophil granulocyte chemotaxis in Job’s syndrome of recurrent "cold" staphylococcal abscesses. Lancet. 1974;2(7881):617-9. doi: 10.1016/s0140-6736(74)91942-4
  10. Беловолова Р.А., Маврина Л.В., Беловолова Е.В., Овсянникова М.Ю. Гипериммуноглобулинемия Е: причины, иммунологические механизмы, диагностическая значимость, показания к оптимизации терапии. Главный врач Юга России. Педиатрия. 2021;2(77):11-6 [Belovolova RA, Mavrina LV, Belovolova EV, Ovsyannikova MYu. Hyperimmunoglobulinemia E: causes, immunological mechanisms, diagnostic significance, indications for optimizing therapy. Glavnyi Vrach Iuga Rossii. Pediatriia. 2021;2(77):11-6 (in Russian)].
  11. Bhutani N, Sharma U, Kumar A, Kajal P. Pediatric hyperimmunoglobulin E syndrome (Job’s syndrome) with STAT3 mutation: A case report. Ann Med Surg (Lond). 2021;66:102452. doi: 10.1016/j.amsu.2021.102452
  12. Freeman AF, Domingo DL, Holland SM. Hyper IgE (Job’s) syndrome: a primary immune deficiency with oral manifestations. Oral Dis. 2009;15(1):2-7. doi: 10.1111/j.1601-0825.2008.01463.x
  13. Grimbacher B, Holland SM, Gallin JI, et al. Hyper-IgE syndrome with recurrent infections – an autosomal dominant multisystem disorder. N Engl J Med. 1999; 340(9):692-702. doi: 10.1056/NEJM199903043400904
  14. Wang S, Mou W, Xu Z, et al. Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene. J Eur Acad Dermatol Venereol. 2018;32(8):e302-4. doi: 10.1111/jdv.14847
  15. Holland SM, DeLeo FR, Elloumi HZ, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007;357(16):1608-19. doi: 10.1056/NEJMoa073687
  16. Баторов Е. Синдром Иова. Катрен Стиль. Онлайн-журнал для фармацевтов и медицинских работников. Режим доступа: https://www.katrenstyle.ru/syndrome/sindrom_iova. Ссылка активна на 27.06.2024 [Batorov E. Sindrom Iova. Katren Stil’. Onlain-zhurnal dlia farmatsevtov i meditsinskikh rabotnikov. Available at: https://www.katrenstyle.ru/syndrome/sindrom_iova. Accessed: 27.06.2024 (in Russian)].
  17. Freeman AF, Holland SM. Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes. Pediatr Res. 2009;65(5 Pt. 2):32R-7R. doi: 10.1203/PDR.0b013e31819dc8c5
  18. Grimbacher B, Holland SM, Park JM. Hyper-IgE syndromes. Immunol Rev. 2005;203:244-50. doi: 10.1111/j.0105-2896.2005.00228.x
  19. Eberting CL, Davis J, Puck JM, et al. Dermatitis and the newborn rash of hyper-IgE syndrome. Arch Dermatol. 2004,140:1119-25. doi: 10.1001/archderm.140.9.1119
  20. Chamlin SL, McCalmont TH, Cunningham BB, et al. Cutaneous manifestations of hyperimmunoglobulin E syndrome in infants and children. J Pediatr. 2002;141(4):572-5. doi: 10.1067/mpd.2002.127503
  21. Zhang Q, Davis JC, Dove CG, Su HC. Genetic, clinical, and laboratory markers of DOCK8 immunodeficiency syndrome. Dis Markers. 2010;29(3-4):131-9. doi: 10.3233/DMA-2010-0737
  22. Zhang Q, Davis JC, Lamborn IT, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361(21):2046-55. doi: 10.1056/NEJMoa0905506

补充文件

附件文件
动作
1. JATS XML
下载
2. Fig. 1. IgE structure and activation of effector cells. MC – mast cell, BAS – basophils (adapt. from [5]).

下载 (72KB)
索引源数据
3. Fig. 2. «The Book of Job».

下载 (72KB)
索引源数据
4. Fig. 3. Satan striking Job with plagues. An illustration by William Blake for «The Book of Job».

下载 (186KB)
索引源数据
5. Fig. 4. The painting «Job and his friends». 1869. I.E. Repin. The State Russian Museum of Saint Petersburg.

下载 (155KB)
索引源数据
6. Fig. 5. «Cold» abscess of the soft tissues of the axillary region [8].

下载 (72KB)
索引源数据
7. Fig. 6. Extensive erythematous lesions in the groin area, spreading to the lower extremity in hyper-IgE syndrome with a mutation in the STAT3 gene [11].

下载 (78KB)
索引源数据
8. Fig. 7. Lesion of the oral mucosa and gums in patients with hyper-IgE syndrome (adapt. from [12]).

下载 (176KB)
索引源数据
9. Fig. 8. Dental changes in patients with hyper-IgE syndrome [13].

下载 (134KB)
索引源数据
10. Fig. 9. Characteristic facial features of men and women of different races with hyper-IgE syndrome [13].

下载 (160KB)
索引源数据
11. Fig. 10. Clinical manifestations of autosomal recessive hyper-IgE syndrome in two brothers from a Chinese family with a mutation in the DOCK8 gene (adapt. from [14]).

下载 (163KB)
索引源数据
12. Fig. 11. Anamnesis of the disease of the children K.

下载 (104KB)
索引源数据
13. Fig. 12. Skin changes from 3-weeks of age of baby E.

下载 (74KB)
索引源数据

版权所有 © Consilium Medicum, 2024

Creative Commons License
此作品已接受知识共享署名-非商业性使用-相同方式共享 4.0国际许可协议的许可。
СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ПИ № ФС 77 - 74329 от 19.11.2018 г.