A case of primary immunodeficiency with immune dysregulation: features of clinical manifestation and diagnostic difficulties
The article describes a case of a rare primary immunodeficiency with immune dysregulation — CD25 deficiency with manifestation in the neonatal period in the form of severe chronic diarrhea, susceptibility to viral, bacterial, and fungal infections, autoimmune manifestations, malabsorption syndrome,...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
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LLC "Publishing House OKI"
2024-06-01
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| Series: | Антибиотики и Химиотерапия |
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| Online Access: | https://www.antibiotics-chemotherapy.ru/jour/article/view/1125 |
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| author | E. N. Serebryakova T. V. Shilova A. S. Kozhevnikov E. I. Kilmukhametova |
| author_facet | E. N. Serebryakova T. V. Shilova A. S. Kozhevnikov E. I. Kilmukhametova |
| author_sort | E. N. Serebryakova |
| collection | DOAJ |
| description | The article describes a case of a rare primary immunodeficiency with immune dysregulation — CD25 deficiency with manifestation in the neonatal period in the form of severe chronic diarrhea, susceptibility to viral, bacterial, and fungal infections, autoimmune manifestations, malabsorption syndrome, hypotrophy, skin lesions, confirmed by a homozygous mutation in the IL2-RA gene detected by DNA analysis. The article discusses the role of IL2-RA in the maturation and differentiation of T-lymphocytes, modern approaches to the classification of primary immunodeficiencies with immune dysregulation, principles of diagnosis and treatment of CD25 deficiency, as well as analyzes and compares other cases of CD25 deficiency described in the literature. |
| format | Article |
| id | doaj-art-ceea7e4feeb6439eaec3d47ba530625a |
| institution | Kabale University |
| issn | 0235-2990 |
| language | Russian |
| publishDate | 2024-06-01 |
| publisher | LLC "Publishing House OKI" |
| record_format | Article |
| series | Антибиотики и Химиотерапия |
| spelling | doaj-art-ceea7e4feeb6439eaec3d47ba530625a2025-08-20T03:59:08ZrusLLC "Publishing House OKI"Антибиотики и Химиотерапия0235-29902024-06-01693-4515710.37489/0235-2990-2024-69-3-4-51-571030A case of primary immunodeficiency with immune dysregulation: features of clinical manifestation and diagnostic difficultiesE. N. Serebryakova0T. V. Shilova1A. S. Kozhevnikov2E. I. Kilmukhametova3South Ural State Medical University of the Ministry of Health of the Russian Federation; Chelyabinsk Regional Children's Clinical HospitalSouth Ural State Medical University of the Ministry of Health of the Russian Federation; Chelyabinsk Regional Children's Clinical HospitalSouth Ural State Medical University of the Ministry of Health of the Russian Federation; Chelyabinsk Regional Children's Clinical HospitalSouth Ural State Medical University of the Ministry of Health of the Russian Federation; Chelyabinsk Regional Children's Clinical HospitalThe article describes a case of a rare primary immunodeficiency with immune dysregulation — CD25 deficiency with manifestation in the neonatal period in the form of severe chronic diarrhea, susceptibility to viral, bacterial, and fungal infections, autoimmune manifestations, malabsorption syndrome, hypotrophy, skin lesions, confirmed by a homozygous mutation in the IL2-RA gene detected by DNA analysis. The article discusses the role of IL2-RA in the maturation and differentiation of T-lymphocytes, modern approaches to the classification of primary immunodeficiencies with immune dysregulation, principles of diagnosis and treatment of CD25 deficiency, as well as analyzes and compares other cases of CD25 deficiency described in the literature.https://www.antibiotics-chemotherapy.ru/jour/article/view/1125cd25 deficiencyprimary immunodeficiency with immune dysregulationdiagnosisclinical manifestations |
| spellingShingle | E. N. Serebryakova T. V. Shilova A. S. Kozhevnikov E. I. Kilmukhametova A case of primary immunodeficiency with immune dysregulation: features of clinical manifestation and diagnostic difficulties Антибиотики и Химиотерапия cd25 deficiency primary immunodeficiency with immune dysregulation diagnosis clinical manifestations |
| title | A case of primary immunodeficiency with immune dysregulation: features of clinical manifestation and diagnostic difficulties |
| title_full | A case of primary immunodeficiency with immune dysregulation: features of clinical manifestation and diagnostic difficulties |
| title_fullStr | A case of primary immunodeficiency with immune dysregulation: features of clinical manifestation and diagnostic difficulties |
| title_full_unstemmed | A case of primary immunodeficiency with immune dysregulation: features of clinical manifestation and diagnostic difficulties |
| title_short | A case of primary immunodeficiency with immune dysregulation: features of clinical manifestation and diagnostic difficulties |
| title_sort | case of primary immunodeficiency with immune dysregulation features of clinical manifestation and diagnostic difficulties |
| topic | cd25 deficiency primary immunodeficiency with immune dysregulation diagnosis clinical manifestations |
| url | https://www.antibiotics-chemotherapy.ru/jour/article/view/1125 |
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