Review
Immunology
Zhengtu Li, Jinglu Yang, Ye Qiu, Feng Yang, Mengxin Tang, Shaoqiang Li, Yangqing Zhan, Yongming Li, Sufang Tang, Cheng Jing, Feng Ye
Summary: This study aims to investigate the clinical characteristics of Talaromycosis with Hyper-Immunoglobulin E Syndrome (HIES). It was found that most patients were young adults, and the main symptoms included fever, cough, and dyspnea, although some patients mainly had gastrointestinal symptoms. The majority of patients had a history of infections since infancy, and blood tests revealed elevated serum immunoglobulin E, increased B cells, and decreased natural killer cells. Chest CT scans showed multiple exudations with cavities in the lungs. Voriconazole combined with thymosin was effective, but most patients had poor outcomes with a high case fatality rate of 25%.
OPEN FORUM INFECTIOUS DISEASES
(2023)
Review
Medicine, General & Internal
Jun Lan, Yi Zhang, Min Song, Shan Cai, Hong Luo, Ruoyun OuYang, Pan Yang, Xiaoliu Shi, Yingjiao Long, Yan Chen
Summary: This article describes a case of a HIES patient who benefited from omalizumab treatment, showing improvement in symptoms.
FRONTIERS IN MEDICINE
(2022)
Article
Pediatrics
Chun-Wei Lu, Wen- Lee, Wen-Hung Chung
Summary: STAT3 hyper-immunoglobulin E syndrome is a rare primary immunodeficiency syndrome with a range of gastrointestinal manifestations, and traditional treatments have shown limited efficacy.
Review
Immunology
Christo Tsilifis, Alexandra F. Freeman, Andrew R. Gennery
Summary: Hyper-IgE syndromes are a group of heterogeneous genetic disorders characterized by increased infection susceptibility, eczema, and elevated serum IgE levels. Research on STAT3-HIES has advanced the understanding of multiple signaling pathways, highlighting key unanswered questions for further study.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Editorial Material
Critical Care Medicine
Adil Adatia, Christopher J. Allen, Joshua Wald, Carl D. Richards, Susan Waserman, Parameswaran Nair
Summary: This case report identifies a novel pathogenic mutation in the STAT3 gene as the cause of autosomal dominant hyper-IgE syndrome in a 58-year-old female patient with airway disease. Successful treatment was achieved with an anti-IL5 biological agent.
Article
Surgery
Seyed Alireza Mahdaviani, Soodeh Ghadimi, Mazdak Fallahi, Seyedeh Atefeh Hashemi-Moghaddam, Zahra Chavoshzadeh, Anne Puel, Nima Rezaei, Mahsa Rekabi, Zahra Daneshmandi, Kambiz Sheikhy, Abolghasem Daneshvar Kakhki, Seyed Reza Saghebi, Saviz Pejhan, Mahnaz Jamee
Summary: Patients with STAT3-HIES have a high susceptibility to pulmonary infections and may require thoracic surgeries.
Review
Immunology
Adriel Roa-Bautista, Mahreen Sohail, Emma Wakeling, Kimberly C. Gilmour, Mark Davis, Anthony Gait, Giovanna Lucchini, David Cox, Reem Elfeky, Maaike Kusters
Summary: This case report presents a newborn with clinical features of SPLIS and severe combined immunodeficiency, with novel variants in SGPL1 and STAT1. The identification of dual diagnosis highlights the importance of comprehensive genetic testing for primary immunodeficiency in patients with similar severe clinical phenotypes in early life.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Multidisciplinary Sciences
Siru Zhou, Qinggang Dai, Xiangru Huang, Anting Jin, Yiling Yang, Xinyi Gong, Hongyuan Xu, Xin Gao, Lingyong Jiang
Summary: The study found that inactivation of STAT3 in osteoblasts can induce AD-HIES-like skeletal defects, while pharmacological activation of STAT3 can rescue this phenotype. STAT3 cooperates with MSX1 to drive osteoblast differentiation, indicating the importance of STAT3 in modulating skeletal development and maintaining bone homeostasis.
NATURE COMMUNICATIONS
(2021)
Review
Pediatrics
Siying Yang, Yonghua He, Jianhua Zhou, Huiqing Yuan, Liru Qiu
Summary: This study reported the cases of two Chinese identical twin girls with steroid-resistant nephrotic syndrome caused by SGPL1 variants. The clinical phenotypes, pathological types, and genotypic characteristics were summarized through retrospective data collection and literature review. These twin girls were the first reported cases of isolated SRNS caused by SGPL1 variants.
FRONTIERS IN PEDIATRICS
(2023)
Article
Oncology
Shao-Yu Zhang, Qingfeng Fan, Anissa Moktefi, Virginie Ory, Vincent Audard, Andre Pawlak, Mario Ollero, Dil Sahali, Carole Henique
Summary: The study revealed that overproduction of CMIP in podocytes is associated with a downregulation of WT1 via two mechanisms. CMIP prevents the NF-kB-mediated transcriptional activation of WT1 and interacts with WT1 directly through its leucine-rich repeat domain. The E3 ligase activity of CMIP targets WT1 for proteasome degradation, suggesting a potential therapeutic target for podocyte diseases.
CLINICAL AND TRANSLATIONAL MEDICINE
(2021)
Review
Pediatrics
Georgia Malakasioti, Daniela Iancu, Kjell Tullus
Summary: CNI response rate in genetic SRNS is 35%, with full responders showing superior kidney survival compared to partial and non-responders. WT1 variant carriers are most likely to respond to CNI. These findings support CNI as first-line treatment for children with SRNS while genetic analyses are pending.
PEDIATRIC NEPHROLOGY
(2021)
Editorial Material
Urology & Nephrology
Tilman B. Drueke, Ziad A. Massy
Summary: Key contributors to anemia in patients with chronic kidney disease include insufficient erythropoietin production, decreased red blood cell half-life, iron deficiency, and inflammation. Proteinuria may alter erythrocyte metabolism and increase erythrocyte death in these patients.
KIDNEY INTERNATIONAL
(2021)
Article
Medicine, General & Internal
Dan Xie, Jiangfen Wu, Wenyi Zhang, Tingting Jin, Peng Wu, Banquan An, Shengwen Huang
Summary: This study reports a case of genetic diagnosis in a patient with congenital nephrotic syndrome. The patient presented with massive proteinuria, hypoproteinemia, hyperlipidemia, and marked edema. Whole exome sequencing identified compound heterozygous mutations in the NPHS1 gene, confirming the diagnosis of congenital nephrotic syndrome. The patient received anti-infective and symptomatic treatment, but died 2 months later with an unclear cause. The identification of a novel mutation expands the gene-mutation spectrum of the NPHS1 gene and provides a potential approach for prenatal screening and early genetic counseling for kidney diseases.
Article
Medicine, General & Internal
Debbie S. Gipson, Jonathan P. Troost, Cathie Spino, Samara Attalla, Joshua Tarnoff, Susan Massengill, Richard Lafayette, Virginia Vega-Warner, Sharon Adler, Patrick Gipson, Matthew Elliott, Frederick Kaskel, Damian Fermin, Marva Moxey-Mims, Richard N. Fine, Elizabeth J. Brown, Kimberly Reidy, Katherine Tuttle, Keisha Gibson, Kevin Lemley, Larry A. Greenbaum, Meredith A. Atkinson, Sangeeta Hingorani, Tarak Srivastava, Christine B. Sethna, Kevin Meyers, Cheryl Tran, Katherine M. Dell, Chia-shi Wang, Jennifer Lai Yee, Matthew G. Sampson, Rasheed Gbadegesin, J. J. Lin, Tammy Brady, Michelle Rheault, Howard Trachtman
Summary: This study examined whether there are differences in kidney health outcomes among children, adolescents, and adults with FSGS, and found that the association of FSGS with kidney survival and functional outcomes was comparable at all ages.
Article
Allergy
Lorenzo Lodi, Laura Eva Faletti, Maria Elena Maccari, Filippo Consonni, Miriam Gross, Ilaria Pagnini, Silvia Ricci, Maximilian Heeg, Gabriele Simonini, Chiara Azzari, Stephan Ehl
Summary: This study describes a patient with Sjogren syndrome and features of AD-HIES caused by a germline R335W-STAT3 variant. The study provides insights into the clinical and immunological phenotype, as well as the molecular consequences of this variant. The findings suggest that the R335W-STAT3 variant displays both gain-of-function and loss-of-function features, challenging the traditional dualism of gain-versus loss-of-function.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2022)