Article
Medicine, General & Internal
Ying Zhang, Hanmin Liu, Tao Ai, Wanmin Xia, Tingting Chen, Lei Zhang, Xiulan Luo, Yaping Duan
Summary: IPEX syndrome is a rare monogenic autoimmune disease with various clinical manifestations. Early diagnosis and treatment are crucial, and mycophenolate mofetil may control respiratory symptoms but induce skin side effects.
Article
Medicine, General & Internal
Youhong Fang, Youyou Luo, Jingan Lou, Jie Chen
Summary: IPEX syndrome is a rare disorder that can manifest early or late in life. Severe gastritis causing vomiting and malnutrition may be a symptom of IPEX syndrome, and next-generation sequencing is useful for diagnosis of atypical cases.
Article
Immunology
Yu Huang, Shuyu Fang, Ting Zeng, Junjie Chen, Lu Yang, Gan Sun, Rongxin Dai, Yunfei An, Xuemei Tang, Ying Dou, Xiaodong Zhao, Lina Zhou
Summary: This study analyzed the molecular and phenotypic characteristics of five Chinese patients with FOXP3 mutations in atypical IPEX syndrome, including two novel mutations. The majority of patients showed atypical phenotypes, and one developed immune-related peripheral neuropathy. Some patients displayed normal frequencies of Treg cells, but imbalanced proportions of Treg cell subsets, CD4(+) T cells, and B cells.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Ranjit Kylat, Kelly Stanley, Sarah Simon, Robert P. Erickson
Summary: This article describes a rare case of interaction between gene mutations in immune dysregulation and ZTTK syndrome, leading to atypical presentation of both conditions.
JOURNAL OF APPLIED GENETICS
(2023)
Article
Pediatrics
Ronghua Yu, Yongmei Xiao, Wuhen Xu, Ting Zhang, Yizhong Wang, Hui Hu
Summary: This case report describes an atypical IPEX syndrome patient with severe eosinophilic gastritis and pyloric stenosis. Multiple treatments were ineffective until the patient underwent hematopoietic stem cell transplantation, which resulted in positive outcomes. Early diagnosis of IPEX syndrome is crucial for improving patient outcomes.
FRONTIERS IN PEDIATRICS
(2022)
Article
Medicine, Research & Experimental
Erica G. Schmitt, Kelsey A. Toth, Samuel I. Risma, Ana Kolicheski, Nermina Saucier, Rafael J. Feliciano Berrios, Zev J. Greenberg, Jennifer W. Leiding, Jack J. Bleesing, Akaluck Thatayatikom, Laura G. Schuettpelz, John R. Edwards, Tiphanie P. Vogel, Megan A. Cooper
Summary: This study found that Tregs are not the primary driver of STAT3 GOF syndrome, and highlights the importance of preclinical models in studying disease mechanisms in rare PIRD.
Article
Endocrinology & Metabolism
Gulay Karaguzel, Recep Polat, Mehtap H. Abul, Alper Han Cebi, Fazil Orhan
Summary: IPEX syndrome is an early onset autoimmune disorder caused by mutation of the FOXP3 gene, characterized by enteropathy, endocrinopathy, and skin manifestations. However, patients with IPEX syndrome may display different types of symptoms.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
(2022)
Article
Immunology
David Zemmour, Louis-Marie Charbonnier, Juliette Leon, Emmanuelle Six, Sevgi Keles, Marianne Delville, Mehdi Benamar, Safa Baris, Julien Zuber, Karin Chen, Benedicte Neven, Maria I. Garcia-Lloret, Frank M. Ruemmele, Carlo Brugnara, Nadine Cerf-Bensussan, Frederic Rieux-Laucat, Marina Cavazzana, Isabelle Andre, Talal A. Chatila, Diane Mathis, Christophe Benoist
Summary: FOXP3 deficiency leads to the alteration of regulatory T cells in both mice and patients with IPEX syndrome, resulting in fatal autoimmunity. The study found a two-step pathogenesis model where core FOXP3-dependent genes are downregulated, destabilizing T-reg cells and promoting systemic inflammation, ultimately disrupting immune homeostasis. Treatment with interleukin-2 improved survival by targeting the T-reg-like compartment.
Article
Immunology
Fangwei Leng, Wenxiang Zhang, Ricardo N. Ramirez, Juliette Leon, Yi Zhong, Lifei Hou, Koichi Yuki, Joris van der Veeken, Alexander Y. Rudensky, Christophe Benoist, Sun Hur
Summary: It has been discovered that FoxP3 can exist in two different dimerization forms, head-to-head dimerization and swap dimerization, with the former being associated with functional specificity and the latter being associated with functional impairment.
Article
Pathology
Demet Teker Duztas, Lina Al-Shadfan, Hakan Ozturk, Hakan Yazan, Erkan Cakir, Nurcan Unver, Ozgur Ekinci, Buket Dalgic, Meino Rohlfs, Tim Jeske, Christoph Klein, Daniel Kotlarz, Odul Egritas Gurkan
Summary: IPEX syndrome is a rare disorder caused by gene mutations, with patients often showing chronic diarrhea and small intestine villous atrophies. Our case is unique in presenting neonatal onset inflammatory bowel disease, chronic lung disease, and granulomas in both gastrointestinal tract and lung parenchyma.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
(2021)
Editorial Material
Pediatrics
Orsolya Horvath, George S. Reusz, Veronika Goda, Kata Kelen, Istvan Balogh, Magdolna Kardos, Krisztian Kallay, Aron Cseh, Attila J. Szabo, Gergely Krivan
Summary: The proof document only includes the answers section of the clinical quiz. Will the questions section be provided in another format?
PEDIATRIC NEPHROLOGY
(2022)
Article
Surgery
Aidan M. Rose, Fiona N. Smith, Chang W. Lee, Mary Slatter, Andrew Gennery, Omar Ahmed
Summary: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare primary immunodeficiency that presents with clinical features of intractable diarrhoea, type 1 diabetes mellitus and eczema. We report a case of IPEX syndrome that underwent facial restoration surgery due to dissatisfaction with facial appearance and lack of functional smile. The patient underwent bilateral lengthening temporalis myoplasties, resulting in improved facial appearance and resting and dynamic smile symmetry.
Review
Immunology
Riccardo Papa, Federica Penco, Stefano Volpi, Marco Gattorno
Summary: An increasing number of monogenic immune-mediated diseases are linked to genes associated with actin cytoskeleton remodeling pathways. These diseases range from pure autoinflammatory conditions to primary immunodeficiencies, with a common theme of cytoskeleton defects. This emerging field provides immunologists with new insights into the physiological and pathological roles of actin cytoskeleton in immune cells.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Genetics & Heredity
Panicos Shangaris, Alison Ho, Andreas Marnerides, Simi George, Mudher AlAdnani, Shu Yau, Mattias Jansson, Jacqueline Hoyle, Joo Wook Ahn, Sian Ellard, Melita Irving, Diana Wellesley, Dharmintra Pasupathy, Muriel Holder-Espinasse
Summary: This article introduces a rare case of male fetal hydrops caused by IPEX syndrome and discusses FOXP3 gene variants as a possible cause for 'unexplained' fetal hydrops. In similar cases, the pathological process begins during intrauterine life, with no survivors described, suggesting a severe variant associated with intrauterine onset and fatal course, i.e., the most severe IPEX phenotype.
BMC MEDICAL GENOMICS
(2021)
Article
Medicine, General & Internal
Francis P. Colizzo, Stuti G. Shroff, Frances A. High, Yi-Bin Chen, Sara Barmettler
Summary: This is a case report on a 33-year-old man with chronic diarrhea and autoimmune enteropathy. Despite treatment, symptoms continued to relapse.
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
Review
Allergy
Khalid Bin Dhuban, Ciriaco A. Piccirillo
Current Opinion in Allergy and Clinical Immunology
(2015)
Article
Immunology
Khalid Bin Dhuban, Eva d'Hennezel, Emil Nashi, Amit Bar-Or, Sadiye Rieder, Ethan M. Shevach, Satoshi Nagata, Ciriaco A. Piccirillo
JOURNAL OF IMMUNOLOGY
(2015)
Article
Immunology
Donald C. Vinh, Khalid Bin Dhuban, Helen Mason, Duncan Lejtenyi, SungMi Jung, Donald C. Sheppard, Damien Faury, Nada Jabado, Ciriaco A. Piccirillo
CLINICAL AND VACCINE IMMUNOLOGY
(2012)
Review
Immunology
Khalid Bin Dhuban, Mara Kornete, Edward S. Mason, Ciriaco A. Piccirillo
IMMUNOLOGICAL REVIEWS
(2014)
Article
Allergy
Khalid Bin Dhuban, Eva d'Hennezel, Moshe Ben-Shoshan, Christine McCusker, Ann Clarke, Pierre Fiset, Bruce Mazer, Ciriaco A. Piccirillo
INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY
(2013)
