STING-Associated Vasculopathy with Onset in infancy (SAVI) Presenting as Massive Intra Alveolar Hemorrhage

被引：3

作者：

Ladoux, Clara ^{[1
]}

Pasquet, Marlene ^{[2
]}

Crow, Yanick J. J. ^{[3
,6
]}

Fremond, Marie Louise ^{[3
,4
]}

Roditis, Lea ^{[5
]}

机构：

[1] Univ Toulouse, Med Sch, Pediat Residency, Toulouse, France

[2] Univ Hosp, Childrens Hosp, Dept Pediat Hematol & Immunol, Toulouse, France

[3] Univ Paris Cite, Imagine Inst, Lab Neurogenet & Neuroinflammat, Inserm UMR 1163, Paris, France

[4] Univ Paris Cite, Necker Hosp, AP HP Ctr, Pediat Haematol Immunol & Rheumatol Unit, Paris, France

[5] Univ Hosp, Childrens Hosp, Dept Pediat Pulmonol & Allergol, Toulouse, France

[6] Univ Edinburgh, Inst Genet & Canc, MRC Human Genet Unit, Edinburgh, Scotland

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2023年 / 43卷 / 04期

关键词：

D O I：

10.1007/s10875-023-01431-9

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

引用

页码：699 / 702

页数：4

共 50 条

[21] A homozygous STING1 gene variant causes STING-associated vasculopathy with onset in infancy (SAVI) in two patients
Wan, Rensheng
Von Hardenberg, Sandra
Olfe, Lisa Isabel
Auber, Bernd
Wetzke, Martin
Steinemann, Doris
EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 438 - 438
[22] First Egyptian patient with STING-associated vasculopathy with onset in infancy
Shoman, W.
El Chazli, Y.
ElSawy, I.
Arostegui, J. I.
SCANDINAVIAN JOURNAL OF RHEUMATOLOGY, 2019, 48 (04) : 338 - 339
[23] Deforming Polyarthritis in a North Indian Family-Clinical Expansion of STING-Associated Vasculopathy with Onset in Infancy (SAVI)
Anjani, Gummadi
Jindal, Ankur Kumar
Prithvi, Ashwini
Kaur, Anit
Rawat, Amit
Sharma, Madhubala
Yuan, Bo
Chinn, Ivan K.
Singh, Surjit
JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (01) : 209 - 211
[24] Interstitial lung disease in STING-associated vasculopathy with onset in infancy (SAVI): Preliminary genotype-phenotype correlation
Malle L.
Marrero B.
Liu Y.
Montealegre G.
Chapelle D.
Kim H.
O'Brien M.
Hill S.
Fontana J.R.
Ramsey S.
Duckers G.
Ozen S.
Issekutz A.
Wittkowski H.
Foell D.
Tenbrock K.
Jones O.
Holland S.
Gonzalez B.
Brogan P.
Omoyinmi E.
Gomes S.M.
Paller A.
Deng Z.
Goldback-Mansky R.
de Jesus A.A.
Pediatric Rheumatology, 13 (Suppl 1)
[25] Novel STING1 Mutations Including in the Transmembrane Linker Region Cause STING-associated Vasculopathy with Onset in Infancy (SAVI)
Lin, Bin
Kahle, Dana
de Jesus, Adriana Almeida
Torreggiani, Sofia
Mitchell, Jacob
Aue, Alexander
Ji, Zheng
Jin, Tengchuan
Goldbach-Mansky, Raphaela
ARTHRITIS & RHEUMATOLOGY, 2020, 72
[26] STING Antagonist (IFM4490) Inhibits STING Activation and STING Dependent Signal Transduction in Patients with STING-associated Vasculopathy with Onset in Infancy (SAVI)
Gaurav, Sachin
Lin, Bin
Park, Sophia
Venkatraman, Shankar
Winkler, David
Goldbach-Mansky, Raphaela
ARTHRITIS & RHEUMATOLOGY, 2022, 74 : 56 - 57
[27] Interstitial Lung Disease Caused by STING-associated Vasculopathy with Onset in Infancy
Clarke, Sarah L. N.
Pellowe, Elizabeth J.
de Jesus, Adriana A.
Goldbach-Mansky, Raphaela
Hilliard, Tom N.
Ramanan, Athimalaipet V.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2016, 194 (05) : 639 - 642
[28] A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Sophia Weidler
Sarah Koss
Christine Wolf
Nadja Lucas
Jürgen Brunner
Min Ae Lee-Kirsch
Pediatric Rheumatology, 22
[29] A 17-Year-Old Girl Diagnosed With STING-Associated Vasculopathy With Onset in Infancy (SAVI) After Lung Transplantation
Kim, Dohyung
Song, Kun Baek
Choi, Eom Ji
Yu, Jinho
CHEST, 2022, 162 (05) : E249 - E252
[30] A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Weidler, Sophia
Koss, Sarah
Wolf, Christine
Lucas, Nadja
Brunner, Juergen
Lee-Kirsch, Min Ae
PEDIATRIC RHEUMATOLOGY, 2024, 22 (01)

← 1 2 3 4 5 →