Interstitial lung disease in STING-associated vasculopathy with onset in infancy (SAVI): preliminary genotype-phenotype correlation
نویسندگان
چکیده
Interstitial lung disease in STING-associated vasculopathy with onset in infancy (SAVI): preliminary genotype-phenotype correlation L Malle, B Marrero, Y Liu, G Montealegre, D Chapelle, H Kim, M O’Brien, S Hill, JR Fontana, S Ramsey, G Duckers, S Ozen, A Issekutz, H Wittkowski, D Foell, K Tenbrock, O Jones, S Holland, B Gonzalez, P Brogan, E Omoyinmi, S Melo Gomes, A Paller, Z Deng, R Goldback-Mansky, A Almeida de Jesus
منابع مشابه
Lung Involvement in Children with Hereditary Autoinflammatory Disorders
Short-lived systemic inflammatory reactions arising from disrupted rules in the innate immune system are the operating platforms of hereditary autoinflammatory disorders (HAIDs). Multiple organs may be involved and aseptic inflammation leading to disease-specific phenotypes defines most HAIDs. Lungs are infrequently involved in children with HAIDs: the most common pulmonary manifestation is ple...
متن کاملEvaluation of three APBI techniques under NSABP B‐39 guidelines
This work compares two accelerated partial breast irradiation modalities, MammoSite brachytherapy and three dimensional conformal radiotherapy (3D-CRT), to a new method, SAVI brachytherapy, following NSABP B-39 guidelines. A total of 21 patients treated at UC San Diego with the SAVI device were evaluated in this comparison. 9 of the 21 patients were eligible for all three modalities and were do...
متن کاملEvaluation of two intracavitary high-dose-rate brachytherapy devices for irradiating additional and irregularly shaped volumes of breast tissue.
The SAVI and Contura breast brachytherapy applicators represent 2 recent advancements in brachytherapy technology that have expanded the number of women eligible for accelerated partial breast irradiation in the treatment of early-stage breast cancer. Early clinical experience with these 2 single-entry, multichannel high-dose-rate brachytherapy devices confirms their ease of use and dosimetric ...
متن کاملFamilial chilblain lupus caused by an activating mutation in STING
Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus characterized by coldinduced cutaneous lesions at acral location. It is caused by loss-of-function mutations in the nucleic acid metabolizing enzymes TREX1 or SAMHD1. Gain-of-function mutations in STING (stimulator of Interferon genes) have been described in an infancy-onset autoinflammatory syndrome with fever, infla...
متن کاملGenotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 13 شماره
صفحات -
تاریخ انتشار 2015