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.

Anahtar Kelime: primary immunodeficiency diseases CMV infection ORAI1 deficiency.

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

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APA	Deveci K, Esenboğa S, bildik h, Ocak M, hizarcioglu gulsen h, ERTUGRUL I, KARLI OGUZ H, Çağdaş D, Yalnizoglu D, Tezcan İ (2023). ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia. , 698 - 703. 10.24953/turkjped.2022.721
Chicago	Deveci Kübra,Esenboğa Saliha,bildik hacer neslihan,Ocak Melike,hizarcioglu gulsen hayriye,ERTUGRUL ILKER,KARLI OGUZ H.KADER,Çağdaş Deniz,Yalnizoglu Dilek,Tezcan İlhan ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia. (2023): 698 - 703. 10.24953/turkjped.2022.721
MLA	Deveci Kübra,Esenboğa Saliha,bildik hacer neslihan,Ocak Melike,hizarcioglu gulsen hayriye,ERTUGRUL ILKER,KARLI OGUZ H.KADER,Çağdaş Deniz,Yalnizoglu Dilek,Tezcan İlhan ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia. , 2023, ss.698 - 703. 10.24953/turkjped.2022.721
AMA	Deveci K,Esenboğa S,bildik h,Ocak M,hizarcioglu gulsen h,ERTUGRUL I,KARLI OGUZ H,Çağdaş D,Yalnizoglu D,Tezcan İ ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia. . 2023; 698 - 703. 10.24953/turkjped.2022.721
Vancouver	Deveci K,Esenboğa S,bildik h,Ocak M,hizarcioglu gulsen h,ERTUGRUL I,KARLI OGUZ H,Çağdaş D,Yalnizoglu D,Tezcan İ ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia. . 2023; 698 - 703. 10.24953/turkjped.2022.721
IEEE	Deveci K,Esenboğa S,bildik h,Ocak M,hizarcioglu gulsen h,ERTUGRUL I,KARLI OGUZ H,Çağdaş D,Yalnizoglu D,Tezcan İ "ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia." , ss.698 - 703, 2023. 10.24953/turkjped.2022.721
ISNAD	Deveci, Kübra vd. "ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia". (2023), 698-703. https://doi.org/10.24953/turkjped.2022.721

APA	Deveci K, Esenboğa S, bildik h, Ocak M, hizarcioglu gulsen h, ERTUGRUL I, KARLI OGUZ H, Çağdaş D, Yalnizoglu D, Tezcan İ (2023). ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia. Turkish Journal of Pediatrics, 65(4), 698 - 703. 10.24953/turkjped.2022.721
Chicago	Deveci Kübra,Esenboğa Saliha,bildik hacer neslihan,Ocak Melike,hizarcioglu gulsen hayriye,ERTUGRUL ILKER,KARLI OGUZ H.KADER,Çağdaş Deniz,Yalnizoglu Dilek,Tezcan İlhan ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia. Turkish Journal of Pediatrics 65, no.4 (2023): 698 - 703. 10.24953/turkjped.2022.721
MLA	Deveci Kübra,Esenboğa Saliha,bildik hacer neslihan,Ocak Melike,hizarcioglu gulsen hayriye,ERTUGRUL ILKER,KARLI OGUZ H.KADER,Çağdaş Deniz,Yalnizoglu Dilek,Tezcan İlhan ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia. Turkish Journal of Pediatrics, vol.65, no.4, 2023, ss.698 - 703. 10.24953/turkjped.2022.721
AMA	Deveci K,Esenboğa S,bildik h,Ocak M,hizarcioglu gulsen h,ERTUGRUL I,KARLI OGUZ H,Çağdaş D,Yalnizoglu D,Tezcan İ ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia. Turkish Journal of Pediatrics. 2023; 65(4): 698 - 703. 10.24953/turkjped.2022.721
Vancouver	Deveci K,Esenboğa S,bildik h,Ocak M,hizarcioglu gulsen h,ERTUGRUL I,KARLI OGUZ H,Çağdaş D,Yalnizoglu D,Tezcan İ ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia. Turkish Journal of Pediatrics. 2023; 65(4): 698 - 703. 10.24953/turkjped.2022.721
IEEE	Deveci K,Esenboğa S,bildik h,Ocak M,hizarcioglu gulsen h,ERTUGRUL I,KARLI OGUZ H,Çağdaş D,Yalnizoglu D,Tezcan İ "ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia." Turkish Journal of Pediatrics, 65, ss.698 - 703, 2023. 10.24953/turkjped.2022.721
ISNAD	Deveci, Kübra vd. "ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia". Turkish Journal of Pediatrics 65/4 (2023), 698-703. https://doi.org/10.24953/turkjped.2022.721