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Quoted phrase not found in phrase index: "Combined immunodeficiency due to ORAI1 deficiency"
Page 1
ORAI1 defect in a patient with disseminated CMV infection and severe hypotonia.
Deveci K, Esenboğa S, Bildik HN, Ocak M, Gülşen HH, Ertuğrul İ, Oğuz KK, Çağdaş D, Yalnızoğlu D, Tezcan İ. Deveci K, et al. Turk J Pediatr. 2023;65(4):698-703. doi: 10.24953/turkjped.2022.721. Turk J Pediatr. 2023. PMID: 37661687 Free article.
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. ...This case emphasizes the importance …
BACKGROUND: A clinical presentation similar to severe combined immunodeficiency (SCID) with defective T cell activation but no …
Failure of Viral-Specific T Cells Administered in Pre-transplant Settings in Children with Inborn Errors of Immunity.
Alonso L, Méndez-Echevarría A, Rudilla F, Mozo Y, Soler-Palacin P, Sisinni L, Bueno D, Riviere J, de Paz R, Sánchez-Zapardiel E, Querol S, Rodriguez-Pena R, López-Granados E, Gimeno R, Díaz de Heredia C, Pérez-Martínez A. Alonso L, et al. J Clin Immunol. 2021 May;41(4):748-755. doi: 10.1007/s10875-020-00961-w. Epub 2021 Jan 18. J Clin Immunol. 2021. PMID: 33462728 Review.
RESULTS: Taking into account our four cases, nine children have been reported to receive VST prior to HSCT to date: 3 severe combined immunodeficiency, 2 CTPS1 deficiency, 1 dyskeratosis congenital, 1 ORAI1 deficiency, 1 Rothmund-Thomson syndrom …
RESULTS: Taking into account our four cases, nine children have been reported to receive VST prior to HSCT to date: 3 severe combined …
The boron-oxygen core of borinate esters is responsible for the store-operated calcium entry potentiation ability.
Dellis O, Mercier P, Chomienne C. Dellis O, et al. BMC Pharmacol. 2011 Jan 26;11:1. doi: 10.1186/1471-2210-11-1. BMC Pharmacol. 2011. PMID: 21266088 Free PMC article.
BACKGROUND: Store-Operated Calcium Entry (SOCE) is the major Ca2+ ion entry pathway in lymphocytes and is responsible of a severe combined immunodeficiency (SCID) when deficient. It has recently been observed or highlighted in other cell types such as myoblas …
BACKGROUND: Store-Operated Calcium Entry (SOCE) is the major Ca2+ ion entry pathway in lymphocytes and is responsible of a severe combine …
Fatal Pneumocystis jirovecii and Cytomegalovirus Infections in an Infant With Normal TRECs Count: Pitfalls of Newborn Screening for Severe Combined Immunodeficiency.
Mendez-Echevarria A, Gonzalez-Granado LI, Allende LM, De Felipe B, Teresa DR, Calvo C, Perez-Martinez A, Raquel RG, Neth O. Mendez-Echevarria A, et al. Pediatr Infect Dis J. 2019 Feb;38(2):157-160. doi: 10.1097/INF.0000000000002058. Pediatr Infect Dis J. 2019. PMID: 29613974
Newborn screening for severe combined immunodeficiency using T-cell receptor excision circles allows prompt diagnosis and initiation of supportive and curative therapy thereby reducing morbidity and mortality. However, profound combined immunodeficiencies …
Newborn screening for severe combined immunodeficiency using T-cell receptor excision circles allows prompt diagnosis and init …