A Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus Syndrome
Mutations in the SLC29A3 gene cause histiocytosis-lymphadenopathy plus (H) syndrome, a rare autosomal recessive genetic condition that affects numerous systems. We present a 7-year-old Syrian patient with pericardial effusion whose acute phase reactants did not decrease despite treatment. In order...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Tehran University of Medical Sciences
2023-09-01
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| Series: | Iranian Journal of Allergy, Asthma and Immunology |
| Subjects: | |
| Online Access: | https://ijaai.tums.ac.ir/index.php/ijaai/article/view/3643 |
| _version_ | 1797674918578487296 |
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| author | Elif Arik Ozlem Keskin Ercan Kucukosmanoglu Mahmut Cesur |
| author_facet | Elif Arik Ozlem Keskin Ercan Kucukosmanoglu Mahmut Cesur |
| author_sort | Elif Arik |
| collection | DOAJ |
| description |
Mutations in the SLC29A3 gene cause histiocytosis-lymphadenopathy plus (H) syndrome, a rare autosomal recessive genetic condition that affects numerous systems. We present a 7-year-old Syrian patient with pericardial effusion whose acute phase reactants did not decrease despite treatment. In order to emphasize the variety and raise awareness of H syndrome in the hopes of achieving an early diagnosis and appropriate treatment, molecular investigation of SLC29A3-related disorders is crucial. H syndrome is an uncommon genetic condition with a broad spectrum of phenotypes. Therefore, early genetic testing is essential for the accurate diagnosis of patients. Doctors should be aware of this condition and its symptoms and consider autoimmune diseases as a possible alternative diagnosis in patients with suspected immunodeficiency.
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| first_indexed | 2024-03-11T22:06:06Z |
| format | Article |
| id | doaj.art-a623e1d03bdf426f8d98e0a94b23cf69 |
| institution | Directory Open Access Journal |
| issn | 1735-1502 1735-5249 |
| language | English |
| last_indexed | 2024-03-11T22:06:06Z |
| publishDate | 2023-09-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Allergy, Asthma and Immunology |
| spelling | doaj.art-a623e1d03bdf426f8d98e0a94b23cf692023-09-25T05:52:56ZengTehran University of Medical SciencesIranian Journal of Allergy, Asthma and Immunology1735-15021735-52492023-09-0122410.18502/ijaai.v22i4.13613A Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus SyndromeElif Arik0Ozlem Keskin1Ercan Kucukosmanoglu2Mahmut Cesur3Department of Pediatric Allergy and Immunology, Gaziantep University Faculty of Medicine, Gaziantep, TurkeyDepartment of Pediatric Allergy and Immunology, Gaziantep University Faculty of Medicine, Gaziantep, TurkeyDepartment of Pediatric Allergy and Immunology, Gaziantep University Faculty of Medicine, Gaziantep, TurkeyDepartment of Pediatric Allergy and Immunology, Gaziantep University Faculty of Medicine, Gaziantep, Turkey Mutations in the SLC29A3 gene cause histiocytosis-lymphadenopathy plus (H) syndrome, a rare autosomal recessive genetic condition that affects numerous systems. We present a 7-year-old Syrian patient with pericardial effusion whose acute phase reactants did not decrease despite treatment. In order to emphasize the variety and raise awareness of H syndrome in the hopes of achieving an early diagnosis and appropriate treatment, molecular investigation of SLC29A3-related disorders is crucial. H syndrome is an uncommon genetic condition with a broad spectrum of phenotypes. Therefore, early genetic testing is essential for the accurate diagnosis of patients. Doctors should be aware of this condition and its symptoms and consider autoimmune diseases as a possible alternative diagnosis in patients with suspected immunodeficiency. https://ijaai.tums.ac.ir/index.php/ijaai/article/view/3643AutoimmunityHistiocytosisLymphadenopathy |
| spellingShingle | Elif Arik Ozlem Keskin Ercan Kucukosmanoglu Mahmut Cesur A Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus Syndrome Iranian Journal of Allergy, Asthma and Immunology Autoimmunity Histiocytosis Lymphadenopathy |
| title | A Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus Syndrome |
| title_full | A Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus Syndrome |
| title_fullStr | A Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus Syndrome |
| title_full_unstemmed | A Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus Syndrome |
| title_short | A Rare Autoimmune Disease Detected in the Differential Diagnosis of Immunodeficiency: Histiocytosis-lymphadenopathy Plus Syndrome |
| title_sort | rare autoimmune disease detected in the differential diagnosis of immunodeficiency histiocytosis lymphadenopathy plus syndrome |
| topic | Autoimmunity Histiocytosis Lymphadenopathy |
| url | https://ijaai.tums.ac.ir/index.php/ijaai/article/view/3643 |
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