ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia.
Autor: | Deveci K; Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara., Esenboğa S; Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara., Bildik HN; Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara., Ocak M; Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara., Gülşen HH; Division of Gastroenterology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara., Ertuğrul İ; Division of Cardiology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara., Oğuz KK; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara., Çağdaş D; Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara., Yalnızoğlu D; Division of Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Tezcan İ; Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara. |
---|---|
Jazyk: | angličtina |
Zdroj: | The Turkish journal of pediatrics [Turk J Pediatr] 2023; Vol. 65 (4), pp. 698-703. |
DOI: | 10.24953/turkjped.2022.721 |
Abstrakt: | 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. |
Databáze: | MEDLINE |
Externí odkaz: |