ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia
Background. A clinical presentation similar to severe combined immunodeficiency (SCID) with defective T cell activation but normal lymphocyte development occurs due to certain molecule defects including ORAI1- and STIM1. Case. A four-month-old girl sufferd from fever, restlessness, dia...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2023-08-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/79 |
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| author | Kübra Deveci Dilek Yalnızoğlu Deniz Çağdaş Kader Karlı Oğuz İlker Ertuğrul Hayriye Hızarcıoğlu Gülşen Melike Ocak Hacer Neslihan Bildik Saliha Esenboğa İlhan Tezcan |
| author_facet | Kübra Deveci Dilek Yalnızoğlu Deniz Çağdaş Kader Karlı Oğuz İlker Ertuğrul Hayriye Hızarcıoğlu Gülşen Melike Ocak Hacer Neslihan Bildik Saliha Esenboğa İlhan Tezcan |
| author_sort | Kübra Deveci |
| collection | DOAJ |
| description |
Background. A clinical presentation similar to severe combined immunodeficiency (SCID) with defective T cell activation but normal lymphocyte development occurs due to certain molecule defects including ORAI1- and STIM1.
Case. A four-month-old girl sufferd from fever, restlessness, diarrhea, and poor weight gain following the neonatal period. There was consanguinity and a positive family history. She had hypotonia and spontaneous opisthotonic posture. Refractory and extensive CMV infections were detected; immunological investigations revealed normal quantitative immunoglobulins and low numbers of CD3+, CD4+, and CD8+ cells. The next generation sequencing analysis revealed a mutation in the ORAI1 gene.
Conclusions. The present patient`s history of refractory and widespread CMV infections shows a clinically substantial reduction in resistance against opportunistic microorganisms. This case emphasizes the importance of considering STIM1 and ORAI1 defects in patients with SCID phenotype and neurologic involvement, such as hypotonia.
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| format | Article |
| id | doaj-art-cb8b9a4e241b410cb310f9a29511c4ce |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2023-08-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-cb8b9a4e241b410cb310f9a29511c4ce2025-08-20T02:17:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212023-08-0165410.24953/turkjped.2022.721ORAI1 defect in a patient with disseminated CMV infection and severe hypotoniaKübra Deveci0Dilek Yalnızoğlu1Deniz Çağdaş2Kader Karlı Oğuz3İlker Ertuğrul4Hayriye Hızarcıoğlu Gülşen5Melike Ocak6Hacer Neslihan Bildik7Saliha Esenboğa8İlhan Tezcan9Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.Division of Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye.Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.Department of Radiology, Hacettepe University Faculty of Medicine, Ankara.Division of Cardiology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.Division of Gastroenterology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara. Background. A clinical presentation similar to severe combined immunodeficiency (SCID) with defective T cell activation but normal lymphocyte development occurs due to certain molecule defects including ORAI1- and STIM1. Case. A four-month-old girl sufferd from fever, restlessness, diarrhea, and poor weight gain following the neonatal period. There was consanguinity and a positive family history. She had hypotonia and spontaneous opisthotonic posture. Refractory and extensive CMV infections were detected; immunological investigations revealed normal quantitative immunoglobulins and low numbers of CD3+, CD4+, and CD8+ cells. The next generation sequencing analysis revealed a mutation in the ORAI1 gene. Conclusions. The present patient`s history of refractory and widespread CMV infections shows a clinically substantial reduction in resistance against opportunistic microorganisms. This case emphasizes the importance of considering STIM1 and ORAI1 defects in patients with SCID phenotype and neurologic involvement, such as hypotonia. https://turkjpediatr.org/article/view/79CMV infectionORAI1 deficiencyprimary immunodeficiency diseases |
| spellingShingle | Kübra Deveci Dilek Yalnızoğlu Deniz Çağdaş Kader Karlı Oğuz İlker Ertuğrul Hayriye Hızarcıoğlu Gülşen Melike Ocak Hacer Neslihan Bildik Saliha Esenboğa İlhan Tezcan ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia The Turkish Journal of Pediatrics CMV infection ORAI1 deficiency primary immunodeficiency diseases |
| title | ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia |
| title_full | ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia |
| title_fullStr | ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia |
| title_full_unstemmed | ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia |
| title_short | ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia |
| title_sort | orai1 defect in a patient with disseminated cmv infection and severe hypotonia |
| topic | CMV infection ORAI1 deficiency primary immunodeficiency diseases |
| url | https://turkjpediatr.org/article/view/79 |
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