Clinical Case of Job Syndrome in Infant
https://doi.org/10.15690/pf.v19i2.2402
Abstract
The article presents clinical case of Job syndrome, variant of primary immune deficiency disease confirmed genetically. This case is interesting for its early diagnosis due to comprehensive assessment of anamnestic, clinical, and laboratory data. Such typical phenotypic features as facial dysmorphisms, recurrent localized purulent infections, and laboratory parameters (absolute neutropenia and eosinophilia) were the major signs of autosomal dominant hyper IgE syndrome in a child with normal IgE levels. The combination of 2 heterozygous mutations in STAT3 gene inherited from his father and his mother has played its role in disease clinical features in the child.
About the Authors
Elena N. Alexeeva
Moscow State University of Medicine and Dentistry named by A.I. Yevdokimov, Ministry of Healthcare
Russian Federation
Disclosure of interest:
Russian Federation
MD.
20/1 Delegatskaya Str., 127473, Moscow.
Disclosure of interest:
No
Marina V. Besedina
Moscow State University of Medicine and Dentistry named by A.I. Yevdokimov, Ministry of Healthcare; Children's State Hospital of St. Vladimir
Russian Federation
Disclosure of interest:
Russian Federation
MD, PhD.
Moscow.
eLibrary AuthorID: 274327
Disclosure of interest:
No
Olga V. Zaytseva
Moscow State University of Medicine and Dentistry named by A.I. Yevdokimov, Ministry of Healthcare; Children's State Hospital of St. Vladimir
Russian Federation
Disclosure of interest:
Russian Federation
MD, Honored Doctor of the Russian Federation, MD, Professor.
20/1 Delegatskaya Str., 127473, Moscow.
tel.: +7 (985) 418-67-10
eLibrary SPIN: 3090-4876
Disclosure of interest:
No
Evgenia M. Tolstova
Moscow State University of Medicine and Dentistry named by A.I. Yevdokimov, Ministry of Healthcare
Russian Federation
Disclosure of interest:
Russian Federation
MD, PhD.
Moscow.
eLibrary SPIN: 6954-3794
Disclosure of interest:
No
Niyra F. Benalieva
Children's State Hospital of St. Vladimir
Russian Federation
Disclosure of interest:
Russian Federation
Pediatrician.
Moscow.
Disclosure of interest:
No
References
1. Shcherbina AYu. Primary immunodeficiencies: Realities of the 21st century. Voprosy gematologii/onkologii I immunopatologii v pediatrii = Pediatric Haematology/Oncology and Immunopathology. 2016;15(1):8-9. (In Russ). doi: https://doi.org/10.20953/1726-1708-2016-1-8-9
2. Zaitseva OV. HiperIgE syndrome. Pediatria. Journal n.a. G.N. Speransky. 2016;95(4):106-111. (In Russ).
3. Grimbacher B, Schaffer AA, Holland SM, et al. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet. 1999;65(3):735-744. doi: https://doi.org/10.1086/302547
4. He YY, Liu B, Xiao XP. Hyper-IgE syndromes. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2017;31(11):892-896. doi: https://doi.org/10.13201/j.issn.1001-1781.2017.11.019
5. Yartsev MN, Yakovleva KP, Plakhtienko MV. Pervichnaya immunnaya nedostatochnost' po dannym Registra pervichnykh immunodefitsitnykh sostoyanii Instituta immunologii FMBA Rossii. Pediatrics. Consilium Medicum. 2006;(1):4-9. (In Russ).
6. Bocharova KA, Shcherbina AYu. Differentsial'naya diagnostika giper-IgE-sindroma (sindrom Iova) i giper-IgE-sostoyanii. Challenges in Modern Medicine. 2012;(16);14-18. (In Russ).
7. Zhang Q, Boisson B, Beziat V, et al. Human hyper-IgE syndrome: singular or plural? Mamm Genome. 2018;29(7-8):603-617. doi: https://doi.org/10.1007/s00335-018-9767-2
8. Muhammed K. Hyper IgE syndrome: report of two cases with moderate elevation of IgE. Indian J Dermatol Venereol Leprol. 2005;71(2):112-114. doi: https://doi.org/10.4103/0378-6323.13997
9. Robinson WS, Arnold SR, Michael CF, et al. Case report of a young child with disseminated histoplasmosis and review of hyper immunoglobulin e syndrome (HIES). Clin Mol Allergy. 2011;9:14. doi: https://doi.org/10.1186/1476-7961-9-14
10. Giberson M, Finlayson L. Hyper-IgE Syndrome in an Infant. J Cutan Med Surg. 2016;20(4):340-342. doi: https://doi.org/10.1177/1203475416629593
11. Chandesris MO, Melki I, Natividad A, et al. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. Medicine (Baltimore). 2012;91(4):e1-e19. doi: https://doi.org/10.1097/MD.0b013e31825f95b9
Review
For citations:
Alexeeva E.N., Besedina M.V., Zaytseva O.V., Tolstova E.M., Benalieva N.F. Clinical Case of Job Syndrome in Infant. Pediatric pharmacology. 2022;19(2):115-118. (In Russ.) https://doi.org/10.15690/pf.v19i2.2402
Views:
635
Email this article 