Clinical case of the infant with primary immunodeficiency
Background. Primary immunodeficiency is a group of more than 550 rare genetic diseases characterized by reduced or absent resistance to infectious agents involving all parts of the immune system. According to the European Association of Immunologists, 70–90% of patients with PID remain undiagnosed....
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| Format: | Article |
| Language: | English |
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V. N. Karazin Kharkiv National University
2025-04-01
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| Series: | Journal of V. N. Karazin Kharkiv National University: Series Medicine |
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| Online Access: | https://ukrmedsci.com/index.php/visnyk/article/view/187 |
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| author | G.R. Muratov M.M. Popov O.V. Volobuieva T.V. Frolova O.M. Savvo Yu.V. Кarpushenko K.Yu. Pashchenko A.G. Soloviova |
| author_facet | G.R. Muratov M.M. Popov O.V. Volobuieva T.V. Frolova O.M. Savvo Yu.V. Кarpushenko K.Yu. Pashchenko A.G. Soloviova |
| author_sort | G.R. Muratov |
| collection | DOAJ |
| description | Background. Primary immunodeficiency is a group of more than 550 rare genetic diseases characterized by reduced or absent resistance to infectious agents involving all parts of the immune system. According to the European Association of Immunologists, 70–90% of patients with PID remain undiagnosed.
Purpose – to describe the features of the course of primary immunodeficiency in infants.
Materials and Methods. The study employed a systematic analysis of medical history data. A review of relevant scientific literature was conducted, followed by systematization and synthesis of information related to the clinical case.
Results. Illustrated data of the medical history of a 3-month-old child who was urgently admitted to the pediatric hospital with signs of surgical pathology (Acute obturative intestinal obstruction. Intestinal perforation.) primary were diagnosed. The clinical signs of the disease, the results of histopathological examination, changes in the immunogram, as well as the presence of a multidrug-resistant flora in the abdominal cavity contents, pure effect from combined antibacterial therapy courses and immunoreplacement therapy allowed us to confirm primary immunodeficiency. While being in the hospital, the child underwent five surgical interventions, which had a complicated course. The fatal outcome caused by the progression of multiple organ failure.
Conclusions. A clinical case of primary immunodeficiency in an infant demonstrates the peculiarities of the course of the disease and the difficulties of its differential diagnosis. The manifestation of immunodeficiency is associated with surgical pathology. The absence of antibacterial therapy response allowed us to suspect primary immunodeficiency and implement appropriate treatment measures. However, the burdened premorbid background, age, and severity of surgical pathology contributed to the development of multiple organ failure, which was the cause of the childʼs death. |
| format | Article |
| id | doaj-art-153ccdfa3f614afc8e0040a7ec87705e |
| institution | DOAJ |
| issn | 2313-6693 2313-2396 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | V. N. Karazin Kharkiv National University |
| record_format | Article |
| series | Journal of V. N. Karazin Kharkiv National University: Series Medicine |
| spelling | doaj-art-153ccdfa3f614afc8e0040a7ec87705e2025-08-20T03:23:57ZengV. N. Karazin Kharkiv National UniversityJournal of V. N. Karazin Kharkiv National University: Series Medicine2313-66932313-23962025-04-01332(53)28029010.26565/2313-6693-2025-53-10Clinical case of the infant with primary immunodeficiencyG.R. Muratov0https://orcid.org/0000-0002-5865-3747M.M. Popov1https://orcid.org/0000-0002-5759-9654O.V. Volobuieva2https://orcid.org/0000-0002-5569-1748T.V. Frolova3https://orcid.org/0000-0002-6861-8902O.M. Savvo4https://orcid.org/0000-0002-8584-3749Yu.V. Кarpushenko5https://orcid.org/0000-0002-2196-8817K.Yu. Pashchenko6https://orcid.org/0000-0003-3855-6787A.G. Soloviova7https://orcid.org/0009-0005-0649-7120V.N. Karazin Kharkiv National University of Ministry of Education and Science of Ukraine, Kharkiv, Ukraine; Kharkiv National Medical University of the Ministry of Health of Ukraine, Kharkiv, UkraineV.N. Karazin Kharkiv National University of Ministry of Education and Science of Ukraine, Kharkiv, UkraineV.N. Karazin Kharkiv National University of Ministry of Education and Science of Ukraine, Kharkiv, UkraineV.N. Karazin Kharkiv National University of Ministry of Education and Science of Ukraine, Kharkiv, Ukraine; Kharkiv National Medical University of the Ministry of Health of Ukraine, Kharkiv, UkraineV.N. Karazin Kharkiv National University of Ministry of Education and Science of Ukraine, Kharkiv, Ukraine; Municipal Non-Commercial Enterprise of the Kharkiv Regional Council «Regional Childrenʼs Clinical Hospital», Kharkiv, UkraineV.N. Karazin Kharkiv National University of Ministry of Education and Science of Ukraine, Kharkiv, Ukraine; Kharkiv National Medical University of the Ministry of Health of Ukraine, Kharkiv, UkraineV.N. Karazin Kharkiv National University of Ministry of Education and Science of Ukraine, Kharkiv, Ukraine; Municipal Non-Commercial Enterprise of the Kharkiv Regional Council «Regional Childrenʼs Clinical Hospital», Kharkiv, UkraineMunicipal Non-Commercial Enterprise of the Kharkiv Regional Council «Regional Childrenʼs Clinical Hospital», Kharkiv, UkraineBackground. Primary immunodeficiency is a group of more than 550 rare genetic diseases characterized by reduced or absent resistance to infectious agents involving all parts of the immune system. According to the European Association of Immunologists, 70–90% of patients with PID remain undiagnosed. Purpose – to describe the features of the course of primary immunodeficiency in infants. Materials and Methods. The study employed a systematic analysis of medical history data. A review of relevant scientific literature was conducted, followed by systematization and synthesis of information related to the clinical case. Results. Illustrated data of the medical history of a 3-month-old child who was urgently admitted to the pediatric hospital with signs of surgical pathology (Acute obturative intestinal obstruction. Intestinal perforation.) primary were diagnosed. The clinical signs of the disease, the results of histopathological examination, changes in the immunogram, as well as the presence of a multidrug-resistant flora in the abdominal cavity contents, pure effect from combined antibacterial therapy courses and immunoreplacement therapy allowed us to confirm primary immunodeficiency. While being in the hospital, the child underwent five surgical interventions, which had a complicated course. The fatal outcome caused by the progression of multiple organ failure. Conclusions. A clinical case of primary immunodeficiency in an infant demonstrates the peculiarities of the course of the disease and the difficulties of its differential diagnosis. The manifestation of immunodeficiency is associated with surgical pathology. The absence of antibacterial therapy response allowed us to suspect primary immunodeficiency and implement appropriate treatment measures. However, the burdened premorbid background, age, and severity of surgical pathology contributed to the development of multiple organ failure, which was the cause of the childʼs death.https://ukrmedsci.com/index.php/visnyk/article/view/187primary immunodeficiency children clinical case |
| spellingShingle | G.R. Muratov M.M. Popov O.V. Volobuieva T.V. Frolova O.M. Savvo Yu.V. Кarpushenko K.Yu. Pashchenko A.G. Soloviova Clinical case of the infant with primary immunodeficiency Journal of V. N. Karazin Kharkiv National University: Series Medicine primary immunodeficiency children clinical case |
| title | Clinical case of the infant with primary immunodeficiency |
| title_full | Clinical case of the infant with primary immunodeficiency |
| title_fullStr | Clinical case of the infant with primary immunodeficiency |
| title_full_unstemmed | Clinical case of the infant with primary immunodeficiency |
| title_short | Clinical case of the infant with primary immunodeficiency |
| title_sort | clinical case of the infant with primary immunodeficiency |
| topic | primary immunodeficiency children clinical case |
| url | https://ukrmedsci.com/index.php/visnyk/article/view/187 |
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