{"title":"播散性巨细胞病毒感染和严重张力低下患者的ORAI1缺陷。","authors":"Kübra Deveci, Saliha Esenboğa, Hacer Neslihan Bildik, Melike Ocak, Hayriye Hızarcıoğlu Gülşen, İlker Ertuğrul, Kader Karlı Oğuz, Deniz Çağdaş, Dilek Yalnızoğlu, İlhan Tezcan","doi":"10.24953/turkjped.2022.721","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Case: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":49409,"journal":{"name":"Turkish Journal of Pediatrics","volume":"65 4","pages":"698-703"},"PeriodicalIF":0.8000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia.\",\"authors\":\"Kübra Deveci, Saliha Esenboğa, Hacer Neslihan Bildik, Melike Ocak, Hayriye Hızarcıoğlu Gülşen, İlker Ertuğrul, Kader Karlı Oğuz, Deniz Çağdaş, Dilek Yalnızoğlu, İlhan Tezcan\",\"doi\":\"10.24953/turkjped.2022.721\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Case: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>\",\"PeriodicalId\":49409,\"journal\":{\"name\":\"Turkish Journal of Pediatrics\",\"volume\":\"65 4\",\"pages\":\"698-703\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Turkish Journal of Pediatrics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.24953/turkjped.2022.721\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Turkish Journal of Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.24953/turkjped.2022.721","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
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, 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.
期刊介绍：
The Turkish Journal of Pediatrics is a multidisciplinary, peer reviewed, open access journal that seeks to publish research to advance the field of Pediatrics. The Journal publishes original articles, case reports, review of the literature, short communications, clinicopathological exercises and letter to the editor in the field of pediatrics. Articles published in this journal are evaluated in an independent and unbiased, double blinded peer-reviewed fashion by an advisory committee.
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