Article
Immunology
Liang Zhang, Ge Lv, Yu Peng, Lu Yang, Junjie Chen, Yunfei An, Zhiyong Zhang, Xuemei Tang, Zhihui Li, Xiaodong Zhao
Summary: This study reports a novel mutation in the RAC2 gene that leads to incomplete penetrance of immunodeficiency symptoms in a Chinese family. The study reveals the impact of this mutation on immune cell function and regulation and identifies varying degrees of immunodeficiency among family members.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Immunology
Xiaojun Duan, Fang Shen, Yafei Deng, Jin Zhang, Fan Fang, Zhenqing Luo, Yanping Chen, Yongjia Yang
Summary: RAC2 is a small molecule that acts as a switch in hematopoietic cells, playing important roles in cell proliferation, secretion, and phagocytosis. Mutations in RAC2 can lead to immunodeficiency, with most cases showing reduced levels of immunoglobulins.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Yujuan Hou, Hans Peter Gratz, Guillermo Urena-Bailen, Paul G. Gratz, Karin Schilbach-Stueckle, Tina Renno, Derya Guengoer, Daniel A. Mader, Elke Malenke, Justin S. Antony, Rupert Handgretinger, Markus Mezger
Summary: This study reports three brothers with low-normal lymphocyte counts and susceptibility to respiratory infections and cutaneous warts. Genetic analysis revealed a novel mutation in the IL2RG gene. Functional characterization showed impaired T-cell function and somatic reversion in certain cell populations. The atypical SCID phenotype in these brothers is due to a combination of hypomorphic IL2RG function and somatic reversion.
Article
Immunology
Liang Zhang, Zhi Chen, Wenyan Li, Qiao Liu, Yanping Wang, Xuemei Chen, Zhirui Tian, Qiuyun Yang, Yunfei An, Zhiyong Zhang, Huawei Mao, Xuemei Tang, Ge Lv, Xiaodong Zhao
Summary: This study presents a novel gain-of-function mutation in RAC2 that is associated with immunodeficiency and functional dysregulation. The mutation leads to abnormal apoptosis and cell polarization. The findings expand our understanding of RAC2 mutations and their underlying mechanisms.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Review
Oncology
Xiaoqing Zhang, Wujun Jiang, Zhongqin Jin, Xueqian Wang, Xiaoxiang Song, Shan Huang, Min Zhang, Huigang Lu
Summary: DCLRE1C hypomorphic mutations lead to atypical SCID with a risk of colon lymphoma. While these cases are rare, EBV-related lymphoma is common in these patients and has a poor prognosis.
FRONTIERS IN ONCOLOGY
(2023)
Article
Multidisciplinary Sciences
Hildegard Nikki Hall, Hemant Bengani, Robert B. Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A. Marsh, Graeme R. Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M. Mannens, Veronica Van Heyningen, Joe Rainger, Brian P. Brooks, David R. FitzPatrick
Summary: This study reported a rare genetic eye disease associated with the MAB21L1 gene, which is related to classical aniridia. These mutations are associated with severe abnormalities in the eyes and bones. The study also found that these mutations may disrupt eye development through a gain-of-function mechanism.
Article
Immunology
Fang Yu, Nourhen Agrebi, Rafah Mackeh, Khaled Abouhazima, Khadija KhudaBakhsh, Mehdi Adeli, Bernice Lo, Amel Hassan, Khaled Machaca
Summary: A novel autosomal recessive mutation in the ORAI1 gene was identified, leading to suppression of SOCE in immune cells and functional impairment. This mutation results in defects in protein folding, bilayer insertion, and channel trafficking, ultimately causing combined immunodeficiency.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Medicine, General & Internal
Sima Bahrami, Saba Arshi, Mohammad Nabavi, Mohammad Hassan Bemanian, Morteza Fallahpour, Afshin Rezaeifar, Sima Shokri
Summary: This article presents the first reported case of progressive multifocal leukoencephalopathy (PML) due to a mutation in the RAC2 gene. The patient, a 34-year-old Iranian man, had multiple disorders including nephritic syndrome, factor XI deficiency, and hypogammaglobulinemia. Despite efforts, the patient died shortly after progression of neurological symptoms. Accurate examination of these cases can provide insight into the immune response to the JC virus and improve treatment for this potentially fatal disease.
JOURNAL OF MEDICAL CASE REPORTS
(2022)
Article
Oncology
Daobing Zeng, Xiaofei Zhao, Liang Di, Luyan Lou, Yanfang Song, Yanrui Zhang, Huanhuan Liu, Guangming Li
Summary: This study explores the potential of trastuzumab combined with capecitabine as a treatment for hilar cholangiocarcinoma and demonstrates its effectiveness in patients with ERBB2 alterations.
FRONTIERS IN ONCOLOGY
(2022)
Article
Immunology
Yifan Xie, Fenli Shao, Juan Lei, Na Huang, Zhidan Fan, Haiguo Yu
Summary: Inherited autosomal dominant gain-of-function mutations of STAT1 can cause various symptoms, such as chronic mucocutaneous candidiasis, infections, and autoimmune disorders. This study presents a rare case of STAT1 mutation with recurrent chronic mucocutaneous candidiasis, lung infections, and anemia. Treatment with ruxolitinib may be a viable option for disease management.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Immunology
Hongjun Ba, Huimin Peng, Liangping Cheng, Yuese Lin, Xuandi Li, Xiufang He, Shujuan Li, Huishen Wang, Youzhen Qin
Summary: This case report describes a 7-month-old infant presenting with symptoms of TM infection including recurrent cough, fever, and rash. Whole exome sequencing revealed complex mutations in the patient's CARD9 gene, but symptoms significantly improved after voriconazole treatment.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Mingyu Xie, Jingjing Wan, Xin Zheng, Xian Zou, Wanting Chen, Kanglin Zhang, Huiting Yuan, Zhenhong Zhang, Haisheng Zeng
Summary: This study reports a case of NLRP3-associated autoinflammatory disease (NLRP3-AID) caused by a de novo mutation in the NLRP3 gene in a Chinese patient. The patient exhibited various symptoms, including fever, rash, and arthritis, and interstitial pulmonary disease was also observed. After treatment, there was a significant improvement in the patient's symptoms and inflammatory markers.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Immunology
Biagio Di Lorenzo, Lucia Pacillo, Giulia Milardi, Tatiana Jofra, Silvia Di Cesare, Jolanda Gerosa, Ilaria Marzinotto, Ettore Zapparoli, Beatrice Rivalta, Cristina Cifaldi, Federica Barzaghi, Carmela Giancotta, Paola Zangari, Novella Rapini, Annalisa Deodati, Giada Amodio, Laura Passerini, Paola Carrera, Silvia Gregori, Paolo Palma, Andrea Finocchi, Vito Lampasona, Maria Pia Cicalese, Riccardo Schiaffini, Gigliola Di Matteo, Ivan Merelli, Matteo Barcella, Alessandro Aiuti, Lorenzo Piemonti, Caterina Cancrini, Georgia Fousteri
Summary: This case report describes a patient progressing to type 1 diabetes (T1D) on a BAFFR-mediated immunodysregulatory background, suggesting a role of BAFF-BAFFR signaling in islet-specific tolerance and T1D progression.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Allergy
Annaise J. Jauch, Olivier Bignucolo, Sayuri Seki, Marie Ghraichy, Ottavia M. Delmonte, Valentin von Niederhausern, Rebecca Higgins, Adhideb Ghosh, Masako Nishizawa, Mariko Tanaka, Adrian Baldrich, Julius Koppen, Julia R. Hirsiger, Robin Hupfer, Stephan Ehl, Anne Rensing-Ehl, Helmut Hopfer, Spasenija Savic Prince, Stephen R. Daley, Florian A. Marquardsen, Benedikt J. Meyer, Michael Tamm, Thomas D. Daikeler, Tamara Diesch, Thomas Kuehne, Arthur Helbling, Caroline Berkemeier, Ingmar Heijnen, Alexander A. Navarini, Johannes Truck, Jean-Pierre de Villartay, Annette Oxenius, Christoph T. Berger, Christoph Hess, Luigi D. Notarangelo, Hiroyuki Yamamoto, Mike Recher
Summary: This study reveals that monoallelic LIG4 mutations may lead to immune dysregulation in humans, characterized by autoimmune cytopenias, lymphoproliferation, decreased specific T cells, and DNA damage intolerance. This finding is important for understanding the pathogenesis of immune-related disorders.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2023)
Article
Dermatology
Janan Mohamad, Ofer Sarig, Paula Beattie, Kiril Malovitski, Sari Assaf, Edel O'Toole, Janice Schwartz, Holly Evans, Liat Samuelov, Eli Sprecher
Summary: This study reports on a novel clinical phenotype resulting from germline mosaicism for a large genomic deletion spanning six keratin genes. The genomic variant leads to a truncated form of keratin 17, which disrupts keratinocyte cell cytoskeleton formation in vitro.
BRITISH JOURNAL OF DERMATOLOGY
(2022)
Article
Allergy
Enrica Calzoni, Craig D. Platt, Sevgi Keles, Hye Sun Kuehn, Sarah Beaussant-Cohen, Yu Zhang, Julia Pazmandi, Gaetana Lanzi, Francesca Pala, Azzeddine Tahiat, Hasibe Artac, Raul Jimenez Heredia, Jasmin Dmytrus, Ismail Reisli, Vedat Uygun, Dilara Uygun, Aysen Bingol, Erdem Basaran, Kamel Djenouhat, Nafissa Benhalla, Chafa Bendahmane, Melike Emiroglu, Tomas Kirchhausen, Mithun Pasham, Jennifer Jones, Jacqueline G. Wallace, Lixin Zheng, Bertrand Boisson, Fulvio Porta, Sergio D. Rosenzweig, Helen Su, Silvia Giliani, Michael Lenardo, Raif S. Geha, Kaan Boztug, Janet Chou, Luigi D. Notarangelo
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2019)
Article
Immunology
Craig D. Platt, Fatima Zaman, Jacqueline G. Wallace, Michael Seleman, Janet Chou, Nashat Al Sukaiti, Raif S. Geha
CLINICAL IMMUNOLOGY
(2019)
Article
Immunology
Jacqueline G. Wallace, Pedro Zambrano-Rodas, Wilmer Cordova-Calderon, Santiago Estrada-Turriate, Daniel Mendoza-Quispe, Yesenia Limache Ontiveros, Raif S. Geha, Janet Chou, Craig D. Platt
CLINICAL IMMUNOLOGY
(2020)
Article
Allergy
Abduarahman Almutairi, Jacqueline G. Wallace, Faris Jaber, Mohammed F. Alosaimi, Jennifer Jones, Mohamed T. H. Sallam, M. H. Elnagdy, Janet Chou, Ali Sobh, Raif S. Geha
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2020)
Article
Allergy
Jacqueline G. Wallace, Mohammed F. Alosaimi, Claudia Djambas Khayat, Faris Jaber, Abduarahman Almutairi, Sarah Beaussant-Cohen, Geraldine Pinkus, Mark Fleming, Cybel Mehawej, Janet Chou, Raif S. Geha
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
(2021)
Article
Cell Biology
Ornella Patrizi, Fabio Rampinelli, Daniela Coltrini, Silvia Pesce, Simona Carlomagno, Simona Sivori, Andre Pascale, Emanuela Marcenaro, Silvia Parolini, Giovanna Tabellini
JOURNAL OF LEUKOCYTE BIOLOGY
(2020)
Article
Medicine, Research & Experimental
Wayne Bainter, Craig D. Platt, Seung-Yeol Park, Kelsey Stafstrom, Jacqueline G. Wallace, Zachary T. Peters, Michel J. Massaad, Michel Becuwe, Sandra Andrea Salinas, Jennifer Jones, Sarah Beaussant-Cohen, Faris Jaber, Jia-Shu Yang, Tobias C. Walther, Jordan S. Orange, Chitong Rao, Seth Rakoff-Nahoum, Maria Tsokos, Shafiq Ur Rehman Naseem, Salem Al-Tamemi, Janet Chou, Victor W. Hsu, Raif S. Geha
Summary: A mutation in the COPI gamma 1 subunit leads to immunodeficiency, which can be corrected by using an ER stress-relieving agent. Moreover, animal experiments suggest that mutant animals exhibit immune issues similar to those of patients after exposure to pet store mice.
JOURNAL OF CLINICAL INVESTIGATION
(2021)
Article
Immunology
Wayne Bainter, Vassilios Lougaris, Jacqueline G. Wallace, Yousef Badran, Rodrigo Hoyos-Bachiloglu, Zachary Peters, Hazel Wilkie, Mrinmoy Das, Erin Janssen, Abdallah Beano, Khaoula Ben Farhat, Christy Kam, Luisa Bercich, Paolo Incardona, Vincenzo Villanacci, Maria Pia Bondioni, Antonella Meini, Manuela Baronio, Phammela Abarzua, Silvia Parolini, Giovanna Tabellini, Stefano Maio, Birgitta Schmidt, Jeffrey D. Goldsmith, George Murphy, Georg Hollander, Alessandro Plebani, Janet Chou, Raif S. Geha
Summary: The Y580C mutation in the helix-loop-helix domain of IKK alpha causes functional abnormalities, severely affecting immune system function, leading to primary immunodeficiency and autoimmune diseases in patients and mice.
SCIENCE IMMUNOLOGY
(2021)
Article
Immunology
Ornella Patrizi, Manuela Baronio, Luisa Gazzurelli, Stefano Rossi, Sara Rezzola, Emanuela Marcenaro, Alessandro Plebani, Raffaele Badolato, Silvia Parolini, Vassilios Lougaris, Giovanna Tabellini
Summary: DOCK8 deficiency affects the function and expression of NK cells, leading to decreased response to viral infections and impaired migration to lymph nodes.
CLINICAL IMMUNOLOGY
(2022)
Article
Pediatrics
Megan E. Paul, Jacqueline G. Wallace, Brian A. Coakley
Summary: Obese children have different postoperative outcomes, requiring more tonsillectomy/adenoidectomy and vascular access procedures. The only complication associated with obesity is wound dehiscence.
Article
Cell Biology
Silvia Codenotti, Daniela Zizioli, Luca Mignani, Sara Rezzola, Giovanna Tabellini, Silvia Parolini, Arianna Giacomini, Michela Asperti, Maura Poli, Delia Mandracchia, Marika Vezzoli, Simona Bernardi, Domenico Russo, Stefania Mitola, Eugenio Monti, Luca Triggiani, Davide Tomasini, Stefano Gastaldello, Matteo Cassandri, Rossella Rota, Francesco Marampon, Alessandro Fanzani
Summary: In pediatric rhabdomyosarcoma, elevated Akt signaling promotes tumor malignancy by hyperactivating the mTOR/p70S6K pathway and enhancing cell invasion and migration. Inhibiting PI3K and Akt signaling can reverse the aggressive phenotype of tumor cells, while mTOR inhibition fails to block cell dissemination. Additionally, pronounced Akt1 signaling increases the susceptibility of tumor cells to certain treatments, such as 2-DG and lovastatin.
Article
Public, Environmental & Occupational Health
Jacqueline G. Wallace, Rachel Chernet, Margaret K. Formica, Olusola Adeonigbagbe, Roseanne L. Flores, Robert Marchesani, Danielle Goldberg, Pamela Wridt, Danielle Laraque-Arena
Summary: This study used a youth participatory action research methodology to explore the relationship between gun violence exposure, gender, and perceptions of children's rights and safety. The results showed that students who witnessed gun violence were more likely to feel unsafe from violence.
INJURY EPIDEMIOLOGY
(2023)
Article
Medicine, Research & Experimental
Erin Janssen, Zachary Peters, Mohammed F. Alosaimi, Emma Smith, Elena Milin, Kelsey Stafstrom, Jacqueline G. Wallace, Craig D. Platt, Janet Chou, Yasmeen S. El Ansari, Tariq Al Farsi, Najim Ameziane, Ruslan Al-Ali, Maria Calvo, Maria Eugenia Rocha, Peter Bauer, Nouriya Abbas Al-Sannaa, Nashat Faud Al Sukaiti, Abdullah A. Alangari, Aida M. Bertoli-Avella, Raif S. Geha
Summary: CBL-B deficiency has been identified as a cause of immune dysregulation, leading to hyperproliferation and altered function of T cells and B cells in patients. Different mutations in CBLB result in diverse consequences, further impacting cellular functions.
JOURNAL OF CLINICAL INVESTIGATION
(2022)
