4.7 Article

Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations

期刊

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
卷 142, 期 5, 页码 1665-1669

出版社

MOSBY-ELSEVIER
DOI: 10.1016/j.jaci.2018.07.020

关键词

-

资金

  1. Intramural Research Program of the National Institutes of Health, National Institute of Allergy and Infectious Diseases

向作者/读者索取更多资源

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.7
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

Article Radiology, Nuclear Medicine & Medical Imaging

CT imaging of esophageal foreign bodies in children: a pictorial essay

Victor J. Seghers, J. Herman Kan, Ray Somcio, Andrew C. Sher, R. Paul Guillerman, Marla B. K. Sammer

Summary: Foreign body (FB) ingestion is common in children, especially between 6 months and 3 years of age. Utilizing a dedicated FB-CT airway protocol can increase diagnostic confidence for esophageal foreign bodies and provide expedited diagnosis compared to fluoroscopic esophagrams.

JAPANESE JOURNAL OF RADIOLOGY (2022)

Article Oncology

Is Detection of Relapse by Surveillance Imaging Associated With Longer Survival in Patients With Rhabdomyosarcoma?

Stephanie Fetzko, Adriana Fonseca, Mary Frances Wedekind, Abha A. Gupta, Bhuvana A. Setty, Jeremy Schraw, Philip J. Lupo, Robert P. Guillerman, Anish A. Butala, Heidi Russell, Lauren Nicholls, David Walterhouse, Douglas S. Hawkins, Mehmet F. Okcu

Summary: This study investigated the impact of surveillance imaging on post-relapse survival in patients with rhabdomyosarcoma. The results were inconclusive, suggesting the need for larger studies to provide more definitive conclusions on whether surveillance imaging provides survival benefit.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2022)

Article Biochemistry & Molecular Biology

Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19

Keith Sacco, Riccardo Castagnoli, Svetlana Vakkilainen, Can Liu, Ottavia M. Delmonte, Cihan Oguz, Ian M. Kaplan, Sara Alehashemi, Peter D. Burbelo, Farzana Bhuyan, Adriana A. de Jesus, Kerry Dobbs, Lindsey B. Rosen, Aristine Cheng, Elana Shaw, Mikko S. Vakkilainen, Francesca Pala, Justin Lack, Yu Zhang, Danielle L. Fink, Vasileios Oikonomou, Andrew L. Snow, Clifton L. Dalgard, Jinguo Chen, Brian A. Sellers, Gina A. Montealegre Sanchez, Karyl Barron, Emma Rey-Jurado, Cecilia Vial, Maria Cecilia Poli, Amelia Licari, Daniela Montagna, Gian Luigi Marseglia, Francesco Licciardi, Ugo Ramenghi, Valentina Discepolo, Andrea Lo Vecchio, Alfredo Guarino, Eli M. Eisenstein, Luisa Imberti, Alessandra Sottini, Andrea Biondi, Sayonara Mato, Dana Gerstbacher, Meng Truong, Michael A. Stack, Mary Magliocco, Marita Bosticardo, Tomoki Kawai, Jeffrey J. Danielson, Tyler Hulett, Manor Askenazi, Shaohui Hu, Jeffrey Cohen, Helen C. Su, Douglas B. Kuhns, Michail S. Lionakis, Thomas M. Snyder, Steven M. Holland, Raphaela Goldbach-Mansky, John S. Tsang, Luigi D. Notarangelo

Summary: Transcriptomic, proteomic and immune repertoire profiling revealed distinct peripheral features of MIS-C and pediatric COVID-19, providing valuable insights into the pathophysiology and potential therapeutic strategies for these disorders.

NATURE MEDICINE (2022)

Article Pediatrics

Application of lung volume reduction surgery for a child with filamin A (FLNA) mutations

Lindsay C. Burrage, Jeffrey S. Heinle, Robert H. Cerfolio, Robert P. Guillerman, Kalyani R. Patel, Nahir C. Santiago, Wynton C. Hoover, George B. Mallory

Summary: Diffuse lung disease in early childhood due to filamin A gene mutations has been reported, with variable clinical outcomes. A significant proportion of cases in infancy have resulted in death or lung transplantation. We encountered a school-aged child with a delayed diagnosis of filamin A mutation, whose natural history of emphysematous lung disease was altered by serial lung volume reduction surgeries. Ultimately, she underwent a bilateral lung transplant, and we report the disease progression and treatments applied.

PEDIATRIC PULMONOLOGY (2022)

Article Pediatrics

Acute appendicitis and SARS-CoV-2 in children: imaging findings at a tertiary children's hospital during the COVID-19 pandemic

Rida Salman, Andrew C. Sher, R. Paul Guillerman, Victor J. Seghers, J. Ruben Rodriguez, Haleh Sangi-Haghpeykar, Ananth Annapragada, Marla B. K. Sammer

Summary: In pediatric patients with suspected appendicitis, there were no significant differences in the diagnostic performance of ultrasound, CT usage, or perforation rates between SARS-CoV-2 positive and SARS-CoV-2 negative patients.

PEDIATRIC RADIOLOGY (2022)

Article Immunology

Febrile neutropenia management and outcomes in hematopoietic cell transplantation for chronic granulomatous disease

Mark Parta, Jennifer Cuellar-Rodriguez, Juan Gea-Banacloche, Jing Qin, Corin Kelly, Christa S. Zerbe, Steven M. Holland, Harry L. Malech, Elizabeth M. Kang

Summary: We analyzed events and therapies related to febrile neutropenia in patients receiving hematopoietic cell transplantation (HCT) for chronic granulomatous disease (CGD). The study found that fever prior to neutropenia was common and some patients experienced Gram-negative bacterial infection before or during neutropenia. Empiric therapy with noncarbapenem antibiotics was commonly used, but carbapenems were also given in some cases. No deaths related to infection associated with neutropenia occurred.

TRANSPLANT INFECTIOUS DISEASE (2022)

Article Microbiology

Inhibiting Mycobacterium abscessus Cell Wall Synthesis: Using a Novel Diazabicyclooctane beta-Lactamase Inhibitor To Augment beta-Lactam Action

Khalid M. Dousa, David C. Nguyen, Sebastian G. Kurz, Magdalena A. Taracila, Christopher R. Bethel, William Schinabeck, Barry N. Kreiswirth, Sheldon T. Brown, W. Henry Boom, Richard S. Hotchkiss, Kenneth E. Remy, Frank J. Jacono, Charles L. Daley, Steven M. Holland, Alita A. Miller, Robert A. Bonomo

Summary: Mycobacterium abscessus (Mab) infections pose a growing threat to patients, especially those with lung diseases and cystic fibrosis. Finding effective combinations of beta-lactam antibiotics and beta-lactamase inhibitors to disrupt cell wall synthesis in Mab is beneficial. The novel diazobicyclooctane beta-lactamase inhibitor durlobactam (DUR) enhances the susceptibilities of Mab isolates to beta-lactams in cell-based assays. DUR potently inhibits the beta-lactamase Bla(Mab) and forms stable acyl-enzyme complexes, providing a biochemical rationale for its activity.
Article Oncology

Imaging of pediatric pulmonary tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee White Paper

Paul G. Thacker, Ramesh S. Iyer, Erika Pace, Lisa J. States, R. Paul Guillerman

Summary: Pediatric pulmonary malignancy can be primary or metastatic, with the latter being more common. While computed tomography (CT) is widely used in almost all cases, there are currently no well-established evidence-based imaging guidelines for pediatric pulmonary malignancies.

PEDIATRIC BLOOD & CANCER (2023)

Article Biochemistry & Molecular Biology

ImmunoTyper-SR: A computational approach for genotyping immunoglobulin heavy chain variable genes using short-read data

Michael K. B. Ford, Ananth Hari, Oscar Rodriguez, Junyan Xu, Justin Lack, Cihan Oguz, Yu Zhang, Sarah Weber, Mary Magliocco, Jason Barnett, Sandhya Xirasagar, Smilee Samuel, Luisa Imberti, Paolo Bonfanti, Andrea Biondi, Clifton L. Dalgard, Stephen Chanock, Lindsey Rosen, Steven Holland, Helen Su, Luigi Notarangelo, Uzi Vishkin, Corey T. Watson, S. Cenk Sahinalp

Summary: This study introduces a new algorithm, ImmunoTyper-SR, for genotyping and copy number variation analysis of the immunoglobulin gene (IGH). The algorithm resolves the challenges of assembling and genotyping the IGH locus by resolving ambiguous read mappings. The study also applies the algorithm to investigate the relationship between IGHV alleles and antibodies associated with COVID-19 severity in COVID patients.

CELL SYSTEMS (2022)

Article Immunology

Disseminated Mycoplasma Orale Infection in Patients With Phosphoinositide-3-Kinase Regulatory Subunit 1 Mutations

Arthur H. Totten, Gulbu Uzel, Pavel P. Khil, Jung-Ho Youn, Jennifer Treat, Craig D. Soutar, Steven M. Holland, John P. Dekker, Christa S. Zerbe

Summary: The article describes 2 cases of PI3KR1 deficiency with invasive Mycoplasma orale infection, emphasizing that PI3KR1 mutations predispose to infections and autoimmune diseases, and mentioning that Mycoplasma orale is a pathobiont that causes rare diseases in immunodeficient hosts.

OPEN FORUM INFECTIOUS DISEASES (2022)

Editorial Material Clinical Neurology

Clinical, Imaging, and Laboratory Findings in Patients With GATA2 Deficiency Presenting With Early-Onset Ischemic Stroke

Shaia Bierman-Chow, Steven M. Holland, Amy P. Hsu, Cindy Palmer, John Lynch, Yair Mina, HyunJoo (Sophie) Cho

Summary: This study characterized the clinical, laboratory, and imaging findings of 10 patients with GATA2 deficiency who presented with early-onset ischemic stroke. The results suggest a link between GATA2 deficiency and stroke, emphasizing the need for further research to understand this unique vulnerability within this patient population.

NEUROLOGY (2023)

Review Oncology

Comparison of the different imaging modalities used to image pediatric oncology patients: A COG diagnostic imaging committee/SPR oncology committee white paper

Donald P. Frush, Michael J. Callahan, Brian D. Coley, Helen R. Nadel, R. Paul Guillerman

Summary: Diagnostic imaging is crucial in the diagnosis and management of pediatric cancer. The choice of imaging modality depends on the specific clinical situation and the strengths and limitations of each modality. Comparing the individual diagnostic imaging modalities can help improve understanding of their influence on pediatric cancer care.

PEDIATRIC BLOOD & CANCER (2023)

Review Genetics & Heredity

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C. Roney, Jenny Serra-Vinardell, Prashant Sharma, David R. Adams, John Gallin, Steven M. Holland, Sergio D. Rosenzweig, Jose Barbot, Carla Ciccone, Marjan Huizing, Camilo Toro, William A. Gahl, Wendy J. Introne, May Christine Malicdan

Summary: The study identified 11 novel pathogenic LYST variants in patients with CHS, adding to a total of 147 variants in LYST. A genotype-phenotype correlation was observed, indicating that individuals with missense or in-frame variants usually have milder disease compared to those with nonsense or frameshift variants.

JOURNAL OF MEDICAL GENETICS (2023)

Editorial Material Allergy

Dermatitis of the Hands and Feet

Meghan Dutt, Yesim Yilmaz Demirdag

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE (2023)

Article Allergy

Osimertinib tolerance in a patient with Stevens Johnson syndrome during osimertinib therapy after treatment with pembrolizumab

Michael Lopez, Garo Hagopian, Linda Doan, Benjamin J. Lee, Nathan W. Rojek, Janellen Smith, Sai-Hong Ignatius Ou, Yesim Yilmaz Demirdag, Misako Nagasaka

Summary: This case report presents a patient with EGFR L858R mutation-positive metastatic NSCLC who developed Osimertinib-induced SJS after recent administration of pembrolizumab-containing chemotherapy regimen. The patient avoided Osimertinib due to previous history of SJS but later tolerated it after four years.

ALLERGY ASTHMA AND CLINICAL IMMUNOLOGY (2023)

暂无数据