Cargando…

Successful Sirolimus Treatment for Korean Patients with Activated Phosphoinositide 3-kinase δ Syndrome 1: the First Case Series in Korea

Activated phosphoinositide 3-kinase δ syndrome (APDS)1 is caused by gain-of-function mutations in PIK3CD, which encodes the catalytic p110δ subunit of phosphoinositide 3 kinase. We describe three patients with APDS1, the first thereof in Korea. Therein, we investigated clinical manifestations of APD...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kang, Ji-Man, Kim, Su Kyung, Kim, Dongsub, Choi, Sae Rom, Lim, Yeon Jung, Kim, Soon Ki, Park, Byung-Kiu, Park, Weon Seo, Kang, Eun-Suk, Ko, Young Hyeh, Choe, Yon Ho, Lee, Ji Won, Kim, Yae-Jean
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Yonsei University College of Medicine 2020
Materias:	Brief Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7256007/ https://www.ncbi.nlm.nih.gov/pubmed/32469178 http://dx.doi.org/10.3349/ymj.2020.61.6.542

Ejemplares similares

Two cases of successful sirolimus treatment for patients with activated phosphoinositide 3-kinase δ syndrome 1
por: Jiang, Lu, et al.
Publicado: (2023)

724. Neurologic Complications in Hospitalized Pediatric Patients with Influenza Infection, A Multicenter Retrospective Study in Korea
por: Choi, Gwang-Jun, et al.
Publicado: (2018)

Needs for Increased Awareness of Gastrointestinal Manifestations in Patients With Human Inborn Errors of Immunity
por: Kim, Eun Sil, et al.
Publicado: (2021)

Therapeutic Drug Level Monitoring of Teicoplanin in Korean Pediatric Patients with Normal versus Impaired Renal Function
por: Choi, Joon-sik, et al.
Publicado: (2020)

Airway epithelial phosphoinositide 3-kinase-δ contributes to the modulation of fungi-induced innate immune response
por: Jeong, Jae Seok, et al.
Publicado: (2018)

2343. A Multicenter Study on Clinical Outcome of Symptomatic Neonatal Herpes Simplex Virus Infection in Korea
por: Kim, Dongsub, et al.
Publicado: (2018)

Case report of compound CFTR variants in Korean siblings with cystic fibrosis: importance of differentiating cystic fibrosis from inflammatory bowel disease
por: Park, Hyejin, et al.
Publicado: (2021)

Nationwide Survey for Pediatric Gastrostomy Tube Placement in Korea
por: Lee, Sangwoo, et al.
Publicado: (2022)

Safety and immunologic benefits of conversion to sirolimus in kidney transplant recipients with long-term exposure to calcineurin inhibitors
por: Yu, Ji Hyun, et al.
Publicado: (2016)

Comparison between Pediatric Crohn’s Disease and Ulcerative Colitis at Diagnosis in Korea: Results from a Multicenter, Registry-Based, Inception Cohort Study
por: Park, Sowon, et al.
Publicado: (2022)

Urine Cotinine for Assessing Tobacco Smoke Exposure in Korean: Analysis of the Korea National Health and Nutrition Examination Survey (KNHANES)
por: Jung, Sungmo, et al.
Publicado: (2012)

Myositis as an Initial Presentation of Ulcerative Colitis before Gastrointestinal Symptoms
por: Kim, Doo Ri, et al.
Publicado: (2020)

Pediatric Emergency Department Utilization and Coronavirus Disease in Daegu, Korea
por: Jang, Kyung Mi, et al.
Publicado: (2020)

Prevalence and Epidemiological Characteristics of Endoscopically Proven Reflux Esophagitis in Children in Korea
por: Yang, Aram, et al.
Publicado: (2017)

The Incidence of Symptomatic Congenital Cytomegalovirus (CMV) Infection in Korea; A 15-year Multi-center Study
por: Choi, Sae Rom, et al.
Publicado: (2017)

Characterization of the fecal microbiota differs between age groups in Koreans
por: Kook, Sun-Young, et al.
Publicado: (2018)

Association between Sleep Duration and Presbycusis in Korean Adults: Korea National Health and Nutrition Examination Survey
por: Kang, Min Ju, et al.
Publicado: (2023)

Phosphoinositide 3-kinase-δ regulates fungus-induced allergic lung inflammation through endoplasmic reticulum stress
por: Lee, Kyung Sun, et al.
Publicado: (2016)

Erratum: Correction of Text in the Article “Pediatric Emergency Department Utilization and Coronavirus Disease in Daegu, Korea”
por: Jang, Kyung Mi, et al.
Publicado: (2021)

2020 Korean Society for the Study of Obesity Guidelines for the Management of Obesity in Korea
por: Kim, Bo-Yeon, et al.
Publicado: (2021)

A contact investigation after exposure to a child with disseminated tuberculosis mimicking inflammatory bowel disease
por: Kim, Dongsub, et al.
Publicado: (2018)

Severe Cutaneous Adverse Reactions in Korean Pediatric Patients: A Study From the Korea SCAR Registry
por: Oh, Hea Lin, et al.
Publicado: (2019)

Adverse Events Associated with Azathioprine Treatment in Korean Pediatric Inflammatory Bowel Disease Patients
por: Chun, Ji Young, et al.
Publicado: (2013)

Tuberculosis among Dislocated North Koreans Entering Republic of Korea since 1999
por: Choi, Chang-Min, et al.
Publicado: (2007)

Association Study of the M132L Single Nucleotide Polymorphism With Susceptibility to Chronic Wasting Disease in Korean Elk: A Meta-Analysis
por: Roh, In-Soon, et al.
Publicado: (2022)

Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea
por: Huh, Hee Jae, et al.
Publicado: (2018)

Heart Failure Statistics in Korea, 2020: A Report from the Korean Society of Heart Failure
por: Park, Jin Joo, et al.
Publicado: (2021)

Chromosome-Scale Genome Assembly and Triterpenoid Saponin Biosynthesis in Korean Bellflower (Platycodon grandiflorum)
por: Lee, Dong-Jun, et al.
Publicado: (2023)

Amebic Liver Abscess in HIV-infected Patients, Republic of Korea
por: Park, Wan Beom, et al.
Publicado: (2007)

Lifestage Sex-Specific Genetic Effects on Metabolic Disorders in an Adult Population in Korea: The Korean Genome and Epidemiology Study
por: Kim, Young-Sang, et al.
Publicado: (2022)

Development of Spinal Tuberculosis in an Adolescent With Crohn's Disease After Infliximab Therapy: A Case Report With Literature Review
por: Jung, Jae Hoon, et al.
Publicado: (2022)

Antioxidant and Antiadipogenic Activities of Galkeun-Tang, a Traditional Korean Herbal Formula
por: Jeong, Soo-Jin, et al.
Publicado: (2014)

Cost is a Barrier to Widespread Use of Liquid-Based Cytology for Cervical Cancer Screening in Korea
por: Chung, Hyun Hoon, et al.
Publicado: (2006)

Efficacy and safety of low-dose Sirolimus in Lymphangioleiomyomatosis
por: Yoon, Hee-Young, et al.
Publicado: (2018)

Prevalence of Foam Cells and Helper-T cells in Atherosclerotic Plaques of Korean Patients with Carotid Atheroma
por: Lee, Won-Ha, et al.
Publicado: (2000)

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry
por: Maccari, Maria Elena, et al.
Publicado: (2018)

Comparison of infant mortality and associated factors between Korean and immigrant women in Korea: an 11-year longitudinal study
por: Kim, Kyung Won, et al.
Publicado: (2021)

Clinical Course of Infliximab Treatment in Korean Pediatric Ulcerative Colitis Patients: A Single Center Experience
por: Kim, Jong Min, et al.
Publicado: (2014)

Dropouts in randomized clinical trials of Korean medicine interventions: a systematic review and meta-analysis
por: Jeon, Sae-rom, et al.
Publicado: (2021)

Optimized formulation of solid self-microemulsifying sirolimus delivery systems
por: Cho, Wonkyung, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_3o0rvifpr7eobfcu8ftir77n1h