Jacobsen’s syndrome: case report
Introduction. Jacobsen syndrome (JS) is a rare genetic disease associated with the deletion of chromosome 11q, characterized by multiple malformations, hematological and immune disorders. The development of immunodeficiency in JS is often underestimated, which leads to recurrent infectious complicat...
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| Format: | Article |
| Language: | Russian |
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Association of Paediatric Allergists and Immunologists of Russia (APAIR)
2024-05-01
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| Series: | Аллергология и Иммунология в Педиатрии |
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| Online Access: | https://adair.elpub.ru/jour/article/view/129 |
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| author | L. Yu. Barycheva L. I. Bachieva N. A. Koz’mova |
| author_facet | L. Yu. Barycheva L. I. Bachieva N. A. Koz’mova |
| author_sort | L. Yu. Barycheva |
| collection | DOAJ |
| description | Introduction. Jacobsen syndrome (JS) is a rare genetic disease associated with the deletion of chromosome 11q, characterized by multiple malformations, hematological and immune disorders. The development of immunodeficiency in JS is often underestimated, which leads to recurrent infectious complications. Presentation of a clinical case. The article presents a clinical case of a patient with a deletion of chromosome 11q and combined immunodeficiency. Our patient had recurrent infections, cytopenic syndrome, combined immunodeficiency, as well as other clinical manifestations of Jacobsen syndrome. In addition to a decrease in serum immunoglobulins, a deep deficiency of the T-cell link of immunity with a low content of T-lymphocytes, recent emigrants from the thymus, has been established. Conclusions. The peculiarity of the presented clinical case is that with a relatively small amount of deletion 11q, the child realized a complete clinical phenotype of the disease and a deep combined immunodeficiency. The article was written to improve doctors’ knowledge about this rare form of congenital immunodeficiency. |
| format | Article |
| id | doaj-art-4a9f56ff228f4e4194d22f1000b3641c |
| institution | DOAJ |
| issn | 2500-1175 2712-7958 |
| language | Russian |
| publishDate | 2024-05-01 |
| publisher | Association of Paediatric Allergists and Immunologists of Russia (APAIR) |
| record_format | Article |
| series | Аллергология и Иммунология в Педиатрии |
| spelling | doaj-art-4a9f56ff228f4e4194d22f1000b3641c2025-08-20T03:19:57ZrusAssociation of Paediatric Allergists and Immunologists of Russia (APAIR)Аллергология и Иммунология в Педиатрии2500-11752712-79582024-05-0101273510.53529/2500-1175-2024-1-27-35104Jacobsen’s syndrome: case reportL. Yu. Barycheva0L. I. Bachieva1N. A. Koz’mova2Stavropol State Medical University; Regional Children’s Clinical HospitalStavropol State Medical UniversityStavropol State Medical UniversityIntroduction. Jacobsen syndrome (JS) is a rare genetic disease associated with the deletion of chromosome 11q, characterized by multiple malformations, hematological and immune disorders. The development of immunodeficiency in JS is often underestimated, which leads to recurrent infectious complications. Presentation of a clinical case. The article presents a clinical case of a patient with a deletion of chromosome 11q and combined immunodeficiency. Our patient had recurrent infections, cytopenic syndrome, combined immunodeficiency, as well as other clinical manifestations of Jacobsen syndrome. In addition to a decrease in serum immunoglobulins, a deep deficiency of the T-cell link of immunity with a low content of T-lymphocytes, recent emigrants from the thymus, has been established. Conclusions. The peculiarity of the presented clinical case is that with a relatively small amount of deletion 11q, the child realized a complete clinical phenotype of the disease and a deep combined immunodeficiency. The article was written to improve doctors’ knowledge about this rare form of congenital immunodeficiency.https://adair.elpub.ru/jour/article/view/129jacobsen syndromedel 11qcombined immunodeficiency |
| spellingShingle | L. Yu. Barycheva L. I. Bachieva N. A. Koz’mova Jacobsen’s syndrome: case report Аллергология и Иммунология в Педиатрии jacobsen syndrome del 11q combined immunodeficiency |
| title | Jacobsen’s syndrome: case report |
| title_full | Jacobsen’s syndrome: case report |
| title_fullStr | Jacobsen’s syndrome: case report |
| title_full_unstemmed | Jacobsen’s syndrome: case report |
| title_short | Jacobsen’s syndrome: case report |
| title_sort | jacobsen s syndrome case report |
| topic | jacobsen syndrome del 11q combined immunodeficiency |
| url | https://adair.elpub.ru/jour/article/view/129 |
| work_keys_str_mv | AT lyubarycheva jacobsenssyndromecasereport AT libachieva jacobsenssyndromecasereport AT nakozmova jacobsenssyndromecasereport |