Clinical Case of Job Syndrome in Infant
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 dysmorphis...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | Russian |
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Union of pediatricians of Russia
2022-05-01
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| Series: | Педиатрическая фармакология |
| Subjects: | |
| Online Access: | https://www.pedpharma.ru/jour/article/view/2152 |
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| author | Elena N. Alexeeva Marina V. Besedina Olga V. Zaytseva Evgenia M. Tolstova Niyra F. Benalieva |
| author_facet | Elena N. Alexeeva Marina V. Besedina Olga V. Zaytseva Evgenia M. Tolstova Niyra F. Benalieva |
| author_sort | Elena N. Alexeeva |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-606fc43774e245f999260a42cb1a4e4a |
| institution | Kabale University |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2022-05-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-606fc43774e245f999260a42cb1a4e4a2025-08-20T03:40:10ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892022-05-0119211511810.15690/pf.v19i2.24021889Clinical Case of Job Syndrome in InfantElena N. Alexeeva0Marina V. Besedina1Olga V. Zaytseva2Evgenia M. Tolstova3Niyra F. Benalieva4Moscow State University of Medicine and Dentistry named by A.I. Yevdokimov, Ministry of HealthcareMoscow State University of Medicine and Dentistry named by A.I. Yevdokimov, Ministry of Healthcare; Children's State Hospital of St. VladimirMoscow State University of Medicine and Dentistry named by A.I. Yevdokimov, Ministry of Healthcare; Children's State Hospital of St. VladimirMoscow State University of Medicine and Dentistry named by A.I. Yevdokimov, Ministry of HealthcareChildren's State Hospital of St. VladimirThe 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.https://www.pedpharma.ru/jour/article/view/2152childrenjob syndromeprimary immune deficiency diseaseshyper ige syndrome |
| spellingShingle | Elena N. Alexeeva Marina V. Besedina Olga V. Zaytseva Evgenia M. Tolstova Niyra F. Benalieva Clinical Case of Job Syndrome in Infant Педиатрическая фармакология children job syndrome primary immune deficiency diseases hyper ige syndrome |
| title | Clinical Case of Job Syndrome in Infant |
| title_full | Clinical Case of Job Syndrome in Infant |
| title_fullStr | Clinical Case of Job Syndrome in Infant |
| title_full_unstemmed | Clinical Case of Job Syndrome in Infant |
| title_short | Clinical Case of Job Syndrome in Infant |
| title_sort | clinical case of job syndrome in infant |
| topic | children job syndrome primary immune deficiency diseases hyper ige syndrome |
| url | https://www.pedpharma.ru/jour/article/view/2152 |
| work_keys_str_mv | AT elenanalexeeva clinicalcaseofjobsyndromeininfant AT marinavbesedina clinicalcaseofjobsyndromeininfant AT olgavzaytseva clinicalcaseofjobsyndromeininfant AT evgeniamtolstova clinicalcaseofjobsyndromeininfant AT niyrafbenalieva clinicalcaseofjobsyndromeininfant |