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2018 | 1 |
2020 | 1 |
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[Spondyloenchondrodysplasia with immune dysregulation: a case report and literature review].
Zhonghua Er Ke Za Zhi. 2018 Aug 2;56(8):611-616. doi: 10.3760/cma.j.issn.0578-1310.2018.08.011.
Zhonghua Er Ke Za Zhi. 2018.
PMID: 30078244
Review.
Chinese.
Objective: To analyze the clinical characteristics of spondyloenchondrodysplasia with immune dysregulation (SPENCDI). Methods: The clinical manifestations, laboratory examinations, treatment and genetic analysis of a patient diagnosed with SPENCDI who …
Objective: To analyze the clinical characteristics of spondyloenchondrodysplasia with immune dysregulation (SPEN …
Monogenic lupus due to spondyloenchondrodysplasia with spastic paraparesis and intracranial calcification: case-based review.
Kara B, Ekinci Z, Sahin S, Gungor M, Gunes AS, Ozturk K, Adrovic A, Cefle A, Inanç M, Gul A, Kasapcopur O.
Kara B, et al.
Rheumatol Int. 2020 Nov;40(11):1903-1910. doi: 10.1007/s00296-020-04653-x. Epub 2020 Jul 20.
Rheumatol Int. 2020.
PMID: 32691099
Free PMC article.
Review.
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Case report: Refractory Evans syndrome in two patients with spondyloenchondrodysplasia with immune dysregulation treated successfully with JAK1/JAK2 inhibition.
Gernez Y, Narula M, Cepika AM, Valdes Camacho J, Hoyte EG, Mouradian K, Glader B, Singh D, Sathi B, Rao L, Tolin AL, Weinberg KI, Lewis DB, Bacchetta R, Weinacht KG.
Gernez Y, et al.
Front Immunol. 2024 Jan 29;14:1328005. doi: 10.3389/fimmu.2023.1328005. eCollection 2023.
Front Immunol. 2024.
PMID: 38347954
Free PMC article.
Review.
Biallelic mutations in the ACP5 gene cause spondyloenchondrodysplasia with immune dysregulation (SPENCDI). SPENCDI is characterized by the phenotypic triad of skeletal dysplasia, innate and adaptive immune dysfunction, and variable neurologic findings …
Biallelic mutations in the ACP5 gene cause spondyloenchondrodysplasia with immune dysregulation (SPENCDI). SPENC …
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