Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Hemophagocytic Lymphohistiocytosis[original query] |
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Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations. Blood advances 2021 Sep . Koh Jiwon, Jang Insoon, Mun Seungchan, Lee Cheol, Cha Hee Jeong, Oh Young Ha, Kim Jin-Man, Han Jae Ho, Paik Jin Ho, Cho Junhun, Ko Young Hyeh, Park Chan-Sik, Go Heounjeong, Huh Jooryung, Kim Kwangsoo, Jeon Yoon Kyu |
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis. International journal of laboratory hematology 2021 Aug . Xinh Phan Thi, Chuong Ho Quoc, Diem Truong Pham Hong, Nguyen Tuan Minh, Van Nguyen Dinh, Mai Anh Nguyen Hoang, Nghia Huynh, Vu Hoang A |
[Association between genotype and clinical phenotype in children with primary hemophagocytic lymphohistiocytosis]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 8 59 (8): 672-677. Zhang L P, Ma H H, Wei A, Zhang R, Li Z G, Wang T |
Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis. Blood research 2021 Jun . Ahmari Ali Al, Alsmadi Osama, Sheereen Atia, Elamin Tanziel, Jabr Amal, El-Baik Lina, Alhissi Safa, Saud Bandar Al, Al-Awwami Moheeb, Fawaz Ibrahim Al, Ayas Mouhab, Siddiqui Khawar, Hawwari Abb |
Inherited Genetic Susceptibility to Nonimmunosuppressed Epstein-Barr Virus-associated T/NK-cell Lymphoproliferative Diseases in Chinese Patients. Current medical science 2021 6 41 (3): 482-490. Guan Yu-Qi, Shen Ke-Feng, Yang Li, Cai Hao-Dong, Zhang Mei-Lan, Wang Jia-Chen, Long Xiao-Lu, Xiong Jie, Gu Jia, Zhang Pei-Ling, Xiao Min, Zhang Wei, Zhou Jian-Fe |
Graft-versus-host disease after liver transplantation is associated with bone marrow failure, hemophagocytosis, and DNMT3A mutations. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2021 5 21 (12): 3894-3906. Newell Laura F, Dunlap Jennifer, Gatter Ken, Bagby Grover C, Press Richard D, Cook Rachel J, Fletcher Luke, Leonard Jessica T, Leong Kelli M, Bubalo Joseph S, Olyaei Ali, Deloughery Thomas G, Maziarz Richard T, Maynard Erin, Orloff Susan L, Enestvedt C Kristi |
Polymorphisms and haplotypes of IL2RA, IL10, IFNG, IRF5, and CCR2 are associated with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children. Pediatric blood & cancer 2021 May e29097. Tang Nannan, Huang Junbin, Chen Chun, Wu Xiaojun, Xu Honggui, Chen Guohua, Xue Hongm |
Hemophagocytic Lymphohistiocytosis Gene Mutations in Adult Patients Presenting With CLIPPERS-Like Syndrome. Neurology(R) neuroimmunology & neuroinflammation 2021 05 8 (3): . Taieb Guillaume, Kaphan Elsa, Duflos Claire, Lebrun-Frénay Christine, Rigau Valérie, Thouvenot Eric, Duhin-Gand Emeline, Lefaucheur Romain, Hoang-Xuan Khe, Coulette Sarah, Ouallet Jean Christophe, Menjot de Champfleur Nicolas, Tranchant Christine, Picard Capucine, Fusaro Mathieu, Sepulveda Fernando E, Labauge Pierre, de Saint Basile Geneviè |
The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India. Frontiers in immunology 2021 3 12 612583. Shabrish Snehal, Kelkar Madhura, Yadav Reetika Malik, Bargir Umair Ahmed, Gupta Maya, Dalvi Aparna, Aluri Jahnavi, Kulkarni Manasi, Shinde Shweta, Sawant-Desai Sneha, Kambli Priyanka, Hule Gouri, Setia Priyanka, Jodhawat Neha, Gaikwad Pallavi, Dhawale Amruta, Nambiar Nayana, Gowri Vijaya, Pandrowala Ambreen, Taur Prasad, Raj Revathi, Uppuluri Ramya, Sharma Ratna, Kini Pranoti, Sivasankaran Meena, Munirathnam Deenadayalan, Vedam Ramprasad, Vignesh Pandiarajan, Banday Aaqib, Rawat Amit, Aggarwal Amita, Poddar Ujjal, Girish Meenakshi, Chaudhary Abhijit, Sampagar Abhilasha, Jayaraman Dharani, Chaudhary Narendra, Shah Nitin, Jijina Farah, Chandrakla S, Kanakia Swati, Arora Brijesh, Sen Santanu, Lokeshwar Madhukar, Desai Mukesh, Madkaikar Manis |
Association of Multiple Gene Polymorphisms Including Homozygous NUDT15 R139C With Thiopurine Intolerance During the Treatment of Acute Lymphoblastic Leukemia. Journal of pediatric hematology/oncology 2021 2 43 (8): e1173-e1176. Kudo Ko, Sato Tomohiko, Takahashi Yuka, Yuzawa Kentaro, Kobayashi Akie, Kamio Takuya, Sasaki Shinya, Shimada Jun, Otani Katsuki, Tusjimoto Shinichi, Kato Motohiro, Toki Tsutomu, Terui Kiminori, Ito Etsu |
PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity. Multiple sclerosis (Houndmills, Basingstoke, England) 2021 2 27 (9): 1332-1340. Sidore Carlo, Orrù Valeria, Cocco Eleonora, Steri Maristella, Inshaw Jamie Rj, Pitzalis Maristella, Mulas Antonella, McGurnaghan Stuart, Frau Jessica, Porcu Eleonora, Busonero Fabio, Dei Mariano, Lai Sandra, Sole Gabriella, Virdis Francesca, Serra Valentina, Poddie Fausto, Delitala Alessandro, Marongiu Michele, Deidda Francesca, Pala Mauro, Floris Matteo, Masala Marco, Onengut-Gumuscu Suna, Robertson Catherine C, Leoni Lidia, Frongia Annapaola, Ricciardi Maria Rossella, Chessa Margherita, Olla Nazario, Lovicu Mario, Loizedda Annalisa, Maschio Andrea, Mereu Luisa, Ferrigno Paola, Curreli Nicolo, Balaci Lenuta, Loi Francesco, Ferreli Liana Ap, Pilia Maria Grazia, Pani Antonello, Marrosu Maria Giovanna, Abecasis Goncalo R, Rich Stephen S, Colhoun Helen, Todd John A, Schlessinger David, Fiorillo Edoardo, Cucca Francesco, Zoledziewska Magdale |
NLRC4 Gene Single Nucleotide Polymorphisms Are Associated with the Prognosis of Hemophagocytic Lymphohistiocytosis. Computational and mathematical methods in medicine 2021 12 2021 8581746. Li Yan, Sun Chengdong, Cui Liying, Wang Qiuyi |
MRI Patterns in Pediatric CNS Hemophagocytic Lymphohistiocytosis. AJNR. American journal of neuroradiology 2021 Oct . Malik P, Antonini L, Mannam P, Aboobacker F N, Merve A, Gilmour K, Rao K, Kumar S, Mani S E, Eleftheriou D, Rao A, Hemingway C, Sudhakar S V, Bartram J, Mankad |
Role of Genetic Polymorphism Present in Macrophage Activation Syndrome Pathway in Post Mortem Biopsies of Patients with COVID-19. Viruses 2022 07 14 (8): . Zanchettin Aline Cristina, Barbosa Leonardo Vinicius, Dutra Anderson Azevedo, Prá Daniele Margarita Marani, Pereira Marcos Roberto Curcio, Stocco Rebecca Benicio, Martins Ana Paula Camargo, Vaz de Paula Caroline Busatta, Nagashima Seigo, de Noronha Lucia, Machado-Souza Cleb |
NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis. Journal of hematology & oncology 2022 7 15 (1): 101. Bi Xiaoman, Zhang Qing, Chen Lei, Liu Dan, Li Yueying, Zhao Xiaoxi, Zhang Ya, Zhang Liping, Liu Jingkun, Wu Chaoyi, Li Zhigang, Zhao Yunze, Ma Honghao, Huang Gang, Liu Xin, Wang Qian-Fei, Zhang R |
High Prevalence of Hemophagocytic Lymphohistiocytosis in Acute Liver Failure of Infancy. The Journal of pediatrics 2022 7 250 67-74.e1. Hadži? Nedim, Molnar Emese, Height Sue, Kovács Gabor, Dhawan Anil, Andrikovics Hajnalka, Worth Austen, Gilmour Kimberly |
EBV protection- and susceptibility-related HLA alleles and EBV status in the Chinese population: A single-center study. Immunity, inflammation and disease 2022 6 10 (7): e666. Suolitiken Dina, Wang Yini, Jin Zhili, Wang Zh |
Hemophagocytic Lymphohistiocytosis Gene Variants in Childhood-Onset Systemic Lupus Erythematosus With Macrophage Activation Syndrome. The Journal of rheumatology 2022 6 49 (10): 1146-1151. Lahiry Piya, Naumenko Sergey, Couse Madeline, Liao Fangming, Dominguez Daniela, Knight Andrea, Levy Deborah M, Misztal Melissa, Ng Lawrence W K, Hiraki Linda |
Outcomes of allogeneic hematopoietic stem cell transplantation for primary hemophagocytic lymphohistiocytosis in adults. Hematological oncology 2022 5 40 (3): 390-399. He Lingbo, Wang Yini, Suolitiken Dina, Zhang Ruoxi, Liu Menghan, Hua Zhengjie, Yao Shuyan, Zou Heshan, Wang Zh |
Treosulfan-Based Conditioning in Matched Family, Unrelated and Haploidentical Hematopoietic Stem Cell Transplantation for Genetic Hemophagocytic Lymphohistiocytosis: Experience and Outcomes over 10 Years from India. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2022 2 38 (1): 84-91. Swaminathan Venkateswaran Vellaichamy, Uppuluri Ramya, Meena Satish Kumar, Varla Harika, Chandar Rumesh, Ramakrishnan Balasubramaniam, Jayakumar Indira, Raj Revat |
Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders. The Journal of allergy and clinical immunology 2022 2 150 (1): 223-228. Coppola Simona, Insalaco Antonella, Zara Erika, Di Rocco Martina, Marafon Denise Pires, Spadaro Francesca, Pannone Luca, Farina Luciapia, Pasquini Luca, Martinelli Simone, De Benedetti Fabrizio, Tartaglia Mar |
Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis. Frontiers in pediatrics 2022 11 10 975665. Park Jong Eun, Lee Taeheon, Ha Kyeongsu, Cho Eun Hye, Ki Chang-Se |
COVID-19 Induced Hemophagocytic Lymphohistiocytosis in a Patient with Novel Homozygous UNC13D Gene Variant. Klinische Padiatrie 2023 7 235 (4): 258-260. Seher Tekeli, Baran Erman, Burcak Kurucu, Gonul Tanir, Caner Aytek |
Good prognosis of adult hemophagocytic lymphohistiocytosis (HLH) associated with the germline HAVCR2 mutation. Experimental hematology 2023 7 . Pitchayut Boonyabaramee, Chantana Polprasert, Sirorat Kobbuaklee, Rung Settapiboon, Saranya Pongudom, Saruta Faknuam, Sunisa Kongkiatkamon, Kitsada Wudhikarn, Ponlapat Rojnuckar |
Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation. The American journal of the medical sciences 2023 7 . Xiangke Xin, Na Wang, Yicheng Zha |
First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene. Annals of clinical biochemistry 2023 6 45632231186076. Paula Sienes Bailo, Nuria Goñi Ros, Bárbara Menéndez Jándula, Ramiro Álvarez Alegret, Eduardo González Gómez, Ricardo González Tarancón, Silvia Izquierdo Álvar |
Mycobacterial Immune Reconstitution Inflammatory Syndrome in HIV is Associated With Protein-Altering Variants in Hemophagocytic Lymphohistiocytosis-Related Genes. The Journal of infectious diseases 2023 4 . Rocco Joseph M, Laidlaw Elizabeth, Galindo Frances, Anderson Megan, Sortino Ornella, Kuriakose Safia, Lisco Andrea, Manion Maura, Sereti Iri |
Retracted: NLRC4 Gene Single Nucleotide Polymorphisms Are Associated with the Prognosis of Hemophagocytic Lymphohistiocytosis. Computational and mathematical methods in medicine 2023 12 2023 9753802. Computational And Mathematical Methods In Medici |
Case Report: HAVCR2 mutation-associated Hemophagocytic lymphohistiocytosis. Frontiers in immunology 2023 12 14 1271324. Deli Song, Jingshi Wang, Jia Zhang, Junxia Hu, Chaofan Wu, Zhao Wa |
[DEMOGRAPHIC, CLINICAL AND LABORATORY CHARACTERISTICS OF CHILDREN DIAGNOSED WITH HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (HLH) IN THE SCHNEIDER CHILDREN'S MEDICAL CENTER BETWEEN 2004-2020]. Harefuah 2023 1 162 (1): 31-36. Brik Simon Dafna, Yacobovich Joan |
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- Page last updated:May 13, 2024
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