ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia

Yıl: 2023 Cilt: 65 Sayı: 4 Sayfa Aralığı: 698 - 703 Metin Dili: İngilizce DOI: 10.24953/turkjped.2022.721 İndeks Tarihi: 18-09-2023

ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia

Öz:
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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  • 1. Devonshire AL, Makhija M. Approach to primary immunodeficiency. Allergy Asthma Proc 2019; 40: 465-469. https://doi.org/10.2500/aap.2019.40.4273
  • 2. Tangye SG, Al-Herz W, Bousfiha A, et al. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2022; 42: 1473-1507. https://doi.org/10.1007/s10875-022-01289-3
  • 3. Shaw PJ, Feske S. Regulation of lymphocyte function by ORAI and STIM proteins in infection and autoimmunity. J Physiol 2012; 590: 4157-4167. https://doi.org/10.1113/jphysiol.2012.233221
  • 4. Lacruz RS, Feske S. Diseases caused by mutations in ORAI1 and STIM1. Ann N Y Acad Sci 2015; 1356: 45- 79. https://doi.org/10.1111/nyas.12938
  • 5. Feske S, Picard C, Fischer A. Immunodeficiency due to mutations in ORAI1 and STIM1. Clin Immunol 2010; 135: 169-182. https://doi.org/10.1016/j. clim.2010.01.011
  • 6. Chou J, Badran YR, Yee CSK, et al. A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function. J Allergy Clin Immunol 2015; 136: 479-482.e1. https://doi.org/10.1016/j.jaci.2015.03.050
  • 7. Bateman CM, Kesson A, Powys M, Wong M, Blyth E. Cytomegalovirus infections in children with primary and secondary immune deficiencies. Viruses 2021; 13: 2001. https://doi.org/10.3390/v13102001
  • 8. Azer SA, Limaiem F. Cytomegalovirus colitis. 2022. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing.
  • 9. Wetwittayakhlang P, Rujeerapaiboon N, Wetwittayakhlung P, et al. Clinical features, endoscopic findings, and predictive factors for mortality in tissue-invasive gastrointestinal cytomegalovirus disease between immunocompetent and immunocompromised patients. Gastroenterol Res Pract 2021; 2021: 8886525. https://doi. org/10.1155/2021/8886525
  • 10. Vicetti Miguel CP, Mejias A, Ramilo O, Ardura MI, Sánchez PJ. Cytomegalovirus meningitis in an infant with severe combined immunodeficiency. J Pediatr 2016; 173: 235-237. https://doi.org/10.1016/j. jpeds.2016.02.054
  • 11. Dehkordy SF, Aghamohammadi A, Ochs HD, Rezaei N. Primary immunodeficiency diseases associated with neurologic manifestations. J Clin Immunol 2012; 32: 1-24. https://doi.org/10.1007/s10875-011- 9593-8
  • 12. Feske S. CRAC channelopathies. Pflugers Arch 2010; 460: 417-435. https://doi.org/10.1007/s00424-009- 0777-5
  • 13. Yang HY, Deng XL, Yin F, Peng J, Wu LW. ORAI1 variation induced combined immunodeficiency: a case report and literature review. Zhonghua Er Ke Za Zhi 2019; 57: 142-145. https://doi.org/10.3760/ cma.j.issn.0578-1310.2019.02.015
  • 14. Klemann C, Ammann S, Heizmann M, et al. Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation. J Allergy Clin Immunol 2017; 140: 1721-1724. https://doi.org/10.1016/j.jaci.2017.05.039
  • 15. Lian J, Cuk M, Kahlfuss S, et al. ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency. J Allergy Clin Immunol 2018; 142: 1297-1310.e11. https://doi.org/10.1016/j.jaci.2017.10.031
  • 16. Yu F, Agrebi N, Mackeh R, et al. Novel ORAI1 mutation disrupts channel trafficking resulting in combined immunodeficiency. J Clin Immunol 2021; 41: 1004-1015. https://doi.org/10.1007/s10875-021- 01004-8
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