Article
Pediatrics
Irum Gul, Taj Ali Khan, Noor ul Akbar, Naila Gul, Rehman Ali, Shahid Niaz Khan
Summary: This study characterized the functional and genetic mutations in X-linked chronic granulomatous disease (CGD). Impaired H2O2 production and abnormal gp91(phox) expression were observed in neutrophils of certain patients. Specific mutations in the CYBB gene were identified through DNA sequencing. This study contributes to the understanding of clinical and genetic spectrum associated with X-linked CGD and emphasizes the importance of early diagnosis and lifelong prophylaxis.
ITALIAN JOURNAL OF PEDIATRICS
(2023)
Article
Biochemistry & Molecular Biology
Maria Chiriaco, Irene Salfa, Giorgiana Madalina Ursu, Cristina Cifaldi, Silvia Di Cesare, Paolo Rossi, Gigliola Di Matteo, Andrea Finocchi
Summary: XL-CGD carriers, previously thought to be clinically healthy due to random X-chromosome inactivation, may actually manifest immune dysregulation due to dysfunctional non-phagocytic leukocytes, with a potential correlation between residual ROS levels and immune dysregulation.
Article
Biochemistry & Molecular Biology
Carla Ijurko, Marta Romo-Gonzalez, Clara Garcia-Calvo, Jose Luis Sardina, Carmen Sanchez-Bernal, Jesus Sanchez-Yaguee, Benedicte Elena-Herrmann, Joran Villaret, Catherine Garrel, Julie Mondet, Pascal Mossuz, Angel Hernandez-Hernandez
Summary: Acute myeloid leukaemia (AML) is a highly heterogeneous disease, and the lack of NOX2 protein affects the metabolism control of AML cells. A panel of differentially expressed metabolic genes has been discovered, which has predictive value for AML prognosis and survival.
FREE RADICAL BIOLOGY AND MEDICINE
(2023)
Article
Immunology
Aravind Sekar, Kirti Gupta, Amit Rawat, Ankur Jindal, Vignesh Pandiarajan, Deepti Suri, Anju Gupta, Gurjit Kaur, Ishwar Kumar, Anjani Gummadi, Archan Sil, Surjit Singh
Summary: The study evaluated the utility of immunohistochemistry (IHC) and immunofluorescence (IF) in determining the underlying pathogenic variants of chronic granulomatous disease (CGD). The results show that IHC and IF are rapid, economical, and pathologist-friendly techniques that provide pertinent information regarding the underlying genetic defects, which can be easily performed on tissue samples.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Hematology
Sophie L. Gibbings, Kelsey C. Haist, Heidi Nick, S. Courtney Frasch, Teagan H. Glass, Brian Vestal, Thomas Danhorn, Kara J. Mould, Peter M. Henson, Donna L. Bratton
Summary: Loss of NADPH oxidase activity in chronic granulomatous disease (CGD) leads to altered phagocyte responses and exaggerated inflammation. The absence of Nox2 in monocyte-derived macrophages (MoMacs) results in impaired maturation and persistent recruitment during zymosan-induced peritonitis in CGD mice.
Article
Biochemistry & Molecular Biology
Rodrigo Prieto-Bermejo, Marta Romo-Gonzalez, Alejandro Perez-Fernandez, Maria Carmen Garcia-Macias, Carmen Sanchez-Bernal, Ignacio Garcia-Tunon, Jesus Sanchez-Yague, Manuel Sanchez-Martin, Angel Hernandez-Hernandez
Summary: The study demonstrates that Cyba(-/-) mice with CGD spontaneously develop granulomas, serving as a valuable model for studying the disease. The altered homeostasis of hematopoiesis in these mice, marked by significant weight loss, splenomegaly, myeloid hyperplasia, and anemia, suggests a possible contribution to the poor outcomes in CGD patients besides their defective innate immunity.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Medicine, General & Internal
Jie Zhang, Meili Fan, Mengmeng Chen, Huihui Wang, Na Miao, Haihua Yu, Lehai Zhang, Qianqian Deng, Changying Yi
Summary: In this study, a novel mutation in the CYBB gene was identified in a patient with X-linked chronic granulomatous disease, expanding the knowledge of mutation spectrum. This finding contributes to genetic counseling and prenatal molecular diagnosis of X-CGD.
Article
Biology
Rui Liu, Kangcheng Song, Jing-Xiang Wu, Xiao-Peng Geng, Liming Zheng, Xiaoyin Gao, Hailin Peng, Lei Chen
Summary: Phagocyte oxidase is crucial for the host defense against pathogens. This study reveals the structure of the NOX2-p22 complex, indicating the importance of cytosolic factors in activating the complex.
Article
Immunology
Lang Yu, Wenhui Li, Ge Lv, Gan Sun, Lu Yang, Junjie Chen, Lina Zhou, Yuan Ding, Zhiyong Zhang, Xuemei Tang, Yunfei An, Xiaodong Zhao
Summary: In this study, a patient with CGD was reported who initially presented with Bacillus Calmette-Guerin disease and recurrent pneumonia. Through various tests, the patient was diagnosed with CGD. Detailed assessment revealed that the patient's neutrophils were almost entirely nonfunctional. It was discovered that an insertion of a LINE-1 transposable element in the CYBB gene intron was responsible for the patient's CGD. Clonal analysis showed that the patient had somatic mosaicism.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Immunology
Bijun Sun, Zeyu Zhu, Xiaoying Hui, Jinqiao Sun, Wenjie Wang, Wenjing Ying, Qinhua Zhou, Haili Yao, Jia Hou, Xiaochuan Wang
Summary: This study reports the clinical and immunological characteristics of variant type X91(+) chronic granulomatous disease (CGD) in a Chinese cohort. X91(+) CGD may result in varied clinical manifestations and a moderate neutrophil stimulation index. Deepening our understanding of variant X91(+) CGD is important to prevent missed diagnoses.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Haokun Yuan, Xiaomei Wu, Hongwei Liu, Lung-Ji Chang
Summary: Chronic granulomatous disease (CGD) is a rare congenital immunodeficiency characterized by a defect in phagocytosis. Hematopoietic stem cell (HSC) transplantation is the only curative treatment, but it has risks. Gene therapy using lentiviral vectors (LVs) carrying different promoters showed promising results for CGD treatment. The EF1a promoter exhibited the highest expression levels without cytotoxicity, while LV-miR223 showed high transgene delivery efficiency and myeloid specificity. Under low-transgenic conditions, only LV-EF1a-CYBB exhibited high antibacterial activity in vivo.
HUMAN GENE THERAPY
(2023)
Article
Immunology
Agnes Donko, Douglas B. Kuhns, Margot A. Cousin, Matthew J. Smith, Keith A. Sacco, Eric W. Klee, Avni Y. Joshi, Ralitza H. Gavrilova, Steven M. Holland, Thomas L. Leto, Roshini S. Abraham
Summary: This study characterized a novel CYBA variant associated with CGD in a pediatric female patient. Despite lacking typical features of granulomas and skin infections, the patient presented with severe recurrent pneumonia, and experiments confirmed the pathogenicity of the variant.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Immunology
Faris Ghalib Bakri, Michelle Mollin, Sylvain Beaumel, Benedicte Vigne, Nathalie Roux-Buisson, Adel Mohammed Al-Wahadneh, Raed Mohammed Alzyoud, Wail Ahmad Hayajneh, Ammar Khaled Daoud, Mohammed Elian Abu Shukair, Mansour Fuad Karadshe, Mahmoud Mohammad Sarhan, Jamal Ahmad Wadi Al-Ramahi, Julien Faure, John Rendu, Marie Jose Stasia
Summary: Chronic Granulomatous Disease (CGD) is a rare immunodeficiency disorder caused by mutations in genes encoding the superoxide-producing enzyme in phagocytes. Most Jordanian CGD patients have autosomal recessive forms and consanguinity may be a contributing factor in the prevalence of the disease in this population.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Immunology
Pandiarajan Vignesh, Archan Sil, Ridhima Aggarwal, Wrik Laha, Sanjib Mondal, Manpreet Dhaliwal, Saniya Sharma, Rakesh Kumar Pilania, Ankur Kumar Jindal, Deepti Suri, Sunil Sethi, Amit Rawat, Surjit Singh
Summary: This study reports the clinical characteristics of CGD patients with mycobacterial infections in North India. The incidence of tuberculosis and BCG-related complications is higher in CGD patients compared to the general population. Screening for CGD is recommended in patients with adverse reactions to BCG vaccination, calcification of left axillary lymph node, and persistent, recurrent or disseminated forms of tuberculosis.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Medical Laboratory Technology
Atefeh Heydari, Farhad Abolnezhadian, Mahnaz Sadeghi-Shabestari, Alihossein Saberi, Ahmad Shamsizadeh, Ata A. Ghadiri, Pegah Ghandil
Summary: This study identified CYBB gene mutations in four Iranian patients with X-linked chronic granulomatous disease (X-CGD), including a novel insertion mutation. The patients exhibited different clinical features compared to other Iranian patients with the same mutations. The findings expand the genetic database of X-CGD patients from Iran and provide valuable information for carrier detection and prenatal diagnosis in high-risk families.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Immunology
Gilbert T. Chua, Mike Yat Wah Kwan, Celine S. L. Chui, Robert David Smith, Edmund Chi-Lok Cheung, Tian Tian, Miriam T. Y. Leung, Sabrina Siu Ling Tsao, Elaine Kan, Wing Kei Carol Ng, Victor Chi Man Chan, Shuk Mui Tai, Tak Ching Yu, Kwok Piu Lee, Joshua Sung Chih Wong, Ying Kit Lin, Chi Chiu Shek, Agnes Sze Yin Leung, Chit Kwong Chow, Ka Wah Li, Johnny Ma, Wai Yuk Fung, Daniel Lee, Ming Yen Ng, Wilfred Hing Sang Wong, Hing Wai Tsang, Janette Kwok, Daniel Leung, Kin Lai Chung, Chun Bong Chow, Godfrey Chi Fung Chan, Wing Hang Leung, Kelvin Kai Wang To, Kwok Yung Yuen, Yu Lung Lau, Ian Chi Kei Wong, Patrick Ip
Summary: There is a significant increase in the risk of acute myocarditis/pericarditis following Comirnaty vaccination among Chinese male adolescents, especially after the second dose. It is recommended for Hong Kong adolescents to receive only one dose of the Comirnaty vaccine.
CLINICAL INFECTIOUS DISEASES
(2022)
Letter
Urology & Nephrology
Alison Lap-Tak Ma, Daniel Leung, Eugene Yu-Hin Chan, Stella Chim, Samuel Cheng, Fanny Tsz-Wai Ho, Wai-Ming Lai, Pak-Chiu Tong, Matthew Hon-Lam Lee, Wilfred Hing-Sang Wong, Sau Man Chan, Jaime Rosa Duque, Joseph Sriyal Malik Peiris, Yu Lung Lau
KIDNEY INTERNATIONAL
(2022)
Letter
Biochemistry & Molecular Biology
Petter Brodin, Giorgio Casari, Liam Townsend, Cliona O'Farrelly, Ivan Tancevski, Judith Loeffler-Ragg, Trine H. Mogensen, Jean Laurent Casanova
Article
Immunology
Yu-Lung Lau, Ting Fan Leung, Benhur Sirvan Cetin, Ener Cagri Dinleyici, Li-Min Huang, Scott A. Halperin, Chien-Chou Hsiao, Bruce Tapiero, Mary Tipton, James D. Campbell, Leentje Moerman, Michael Povey, Dan Bi, Tina Singh
Summary: This study evaluated the reactogenicity and safety of a liquid PCV-free HRV vaccine. The results showed that the occurrence of general adverse events was comparable between infants who received the liquid PCV-free HRV vaccine and those who received the lyophilized HRV vaccine. Irritability/fussiness was the most frequently reported adverse event. The incidence of unsolicited adverse events and serious adverse events was also similar between the two groups.
Article
Biotechnology & Applied Microbiology
Gilbert T. Chua, Cheung Lok Yan, Wilfred H. S. Wong, Siddharth Sridhar, Kelvin Kw To, Joseph Lau, Sharmila Gurung, Shalini Mahtani, Raymond Ho, Wing Sum Li, Jason Cs Yam, Jaime S. Rosa Duque, Ian C. K. Wong, Yu Lung Lau, Mike Yat Wah Kwan, Patrick Ip
Summary: This study investigated the COVID-19 vaccination rates and factors associated with vaccine acceptance among ethnic minorities in Hong Kong. The results showed that 80.6% of participants were categorized as vaccine acceptance, and 69.2% were willing to be re-vaccinated. Filipinos had a higher vaccine acceptance rate compared to Indonesians. Education level, COVID-19 knowledge score, information source, and confidence in judging information accuracy were factors positively influencing vaccine acceptance.
HUMAN VACCINES & IMMUNOTHERAPEUTICS
(2022)
Article
Gastroenterology & Hepatology
Ujjal Poddar, Amita Aggarwal, Krishnegowda Jayalakshmi, Moinak Sen Sarma, Anshu Srivastava, Amit Rawat, Surender Kumar Yachha
Summary: This study analyzed 48 cases of very early-onset inflammatory bowel disease (VEO-IBD) among 200 children, and found that 32% of them had monogenic VEO-IBD. The clinical features that differentiated monogenic from nonmonogenic VEO-IBD included neonatal onset, perianal disease, consanguinity and sibling death, wasting, stunting, and unclassified phenotype of IBD.
INFLAMMATORY BOWEL DISEASES
(2023)
Article
Biochemical Research Methods
Yusuke Kawashima, Masaki Ishikawa, Ryo Konno, Daisuke Nakajima, Osamu Ohara
Summary: In this study, a new insertion spray ionization (InSpIon) system was developed, which improved the reproducibility of proteome analysis by stabilizing the spray with a spray tip inserted into the InSpIon tube.
JOURNAL OF PROTEOME RESEARCH
(2023)
Article
Rheumatology
Hironori Sato, Yuzaburo Inoue, Yusuke Kawashima, Ryo Konno, Osamu Ohara, Masataka Kuwana, Norimoto Kobayashi, Shunichiro Takezaki, Shinji Akioka
Summary: By comprehensively analyzing the proteins in the serum of JDM patients, we identified specific protein expression profiles for muscle-specific autoantibodies (MSAs) associated with different clinical features. We detected numerous proteins related to muscle development and IFN regulation in JDM sera. Pathway analysis revealed a significant upregulation of the type I IFN and proteasome pathways specifically in the anti-MDA5 antibody group. These findings indicate that the pathways associated with clinical features of MSAs vary depending on protein accumulation.
Letter
Hematology
Yukiko Komeno, Toru Uchiyama, Fuyuko Kawano, Yuya Kurihara, Mineo Kurokawa, Osamu Ohara, Shinji Kunishima, Akira Ishiguro
ANNALS OF HEMATOLOGY
(2023)
Article
Transplantation
Joyita Bharati, Jhumki Das, Pandiarajan Vignesh, Kenar D. Jhaveri, Arun Prabhahar, Chandan Krushna Das, Anita Singh Parihar, Ritambhra Nada, Raja Ramachandran, Amit Rawat, Harbir Singh Kohli
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Review
Medicine, General & Internal
Pallavi L. Nadig, Vibhu Joshi, Rakesh Kumar Pilania, Rajni Kumrah, Jayakanthan Kabeerdoss, Saniya Sharma, Deepti Suri, Amit Rawat, Surjit Singh
Summary: Kawasaki disease (KD) is a childhood vasculitis that primarily affects medium vessels, particularly the coronary arteries. Coronary artery aneurysm occurs in about 25-30% of untreated cases, leading to significant morbidity. Intravenous immunoglobulin (IVIg) has been consistently shown to reduce the risk of coronary artery aneurysms to less than 5%, but the mechanism of immunomodulation is still unclear. Studies suggest that IVIg may modulate the innate immune system by affecting toll-like receptor pathways, autophagy, apoptosis, neutrophil extracellular trap, dendritic cell modulation, T-cell differentiation, cytokine release, and regulatory T-cell function. This review discusses the potential mechanisms underlying the immunomodulatory actions of IVIg in KD patients and summarizes the evidence regarding infusion protocols and dosages used in treatment.
Review
Medicine, General & Internal
Saniya Sharma, Pallavi L. Nadig, Rakesh Kumar Pilania, Kaushal Sharma, Manpreet Dhaliwal, Amit Rawat, Surjit Singh
Summary: The exact cause of Kawasaki disease (KD), a common childhood vasculitis, is still unknown, but it is believed to involve an abnormal immune response triggered by an infectious or environmental factor in genetically predisposed children. Patients with inborn errors of immunity (IEI) are more susceptible to infections that can lead to immune dysregulation due to imbalances in the immune system. KD can develop as a complication in both primary and secondary immunodeficiencies. The association between KD and IEI is currently based on specific case reports and case series, and more research is needed to fully understand the underlying mechanisms.
Review
Pediatrics
Aaqib Zaffar Banday, Alisha Babbar, Pratap Kumar Patra, Ankur Kumar Jindal, Deepti Suri, Vignesh Pandiarajan, Amit Rawat, Anju Gupta, Surjit Singh
Summary: In this study, the occurrence of Kawasaki disease (KD) in relation to neoplasms was investigated. The results suggest a possible association between neoplasms and the triggering of KD, as well as an increased risk of coronary artery abnormalities (CAAs) in neoplasm-related KD.
JOURNAL OF TROPICAL PEDIATRICS
(2023)
Article
Medicine, Research & Experimental
Jagdeep Singh, Ranjana Walker Minz, Biman Saikia, Ritambhra Nada, Aman Sharma, Saket Jha, Shashi Anand, Manish Rathi, Sanjay D'Cruz
Summary: This study investigates the role of neutrophils in the development of ANCA-associated vasculitis (AAV) and pauci-immune crescentic GN (PICGN). It highlights the importance of immune checkpoint molecules (PD-L1), migratory molecules (CXCR2), chemotactic chemokines (CXCL5), and other molecules (BAFF and HMGB1) in the immunomodulation and progression of AAV. The findings suggest that reduced expression of PD-L1 in neutrophils may contribute to the development of AAV, and changes in neutrophil markers during remission may explain the tendency for relapse.
CLINICAL AND EXPERIMENTAL MEDICINE
(2023)
Article
Medicine, Research & Experimental
Lekha Rani, Jagdeep Singh, Aman Sharma, Heera Singh, Indu Verma, Naresh K. Panda, Ranjana W. Minz
Summary: This study found a significant association of HLA-DRB1*08, DRB1*16 and DQB1*04 alleles with GPA susceptibility, while DRB1*15, DRB1*10 and DQB1*05 alleles were suggested as protective alleles. Among S. aureus antigens, active GPA patients showed stronger immune responses. The lack of DQB1*06 allele may lead to complete remission.
CLINICAL AND EXPERIMENTAL MEDICINE
(2023)