Human Genome Epidemiology Literature Finder
Primary Immune Deficiency Diseases
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Records 1 - 22 (of 22 Records) |
| Query Trace: Severe Combined Immunodeficiency[original query] |
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| Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. American journal of medical genetics 2001 Jan 98 (1): 46-56. Fanos J H, Davis J, Puck J |
| Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. Genetics in medicine : official journal of the American College of Medical Genetics 0 6 (1): 16-26. Kalman Lisa, Lindegren Mary Lou, Kobrynski Lisa, Vogt Robert, Hannon Harry, Howard Joelyn Tonkin, Buckley Rebec |
| GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. Clinical immunology (Orlando, Fla.) 2007 Aug 124 (2): 165-9. Haq Iram J, Steinberg Laura J, Hoenig Manfred, van der Burg Mirjam, Villa Anna, Cant Andrew J, Middleton Peter G, Gennery Andrew |
| Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood 2012 Mar 119 (11): 2552-5. Borte Stephan, von Döbeln Ulrika, Fasth Anders, Wang Ning, Janzi Magdalena, Winiarski Jacek, Sack Ulrich, Pan-Hammarström Qiang, Borte Michael, Hammarström Lenna |
| Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011). Journal of clinical immunology 2012 Dec . Yao CM, Han XH, Zhang YD, Zhang H, Jin YY, Cao RM, Wang X, Liu QH, Zhao W, Chen TX |
| Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities. Clinical immunology (Orlando, Fla.) 2015 Aug 161 (2): 174-179. Adams Stuart P, Wilson Melanie, Harb Elissar, Fairbanks Lynette, Xu-Bayford Jinhua, Brown Lucie, Kearney Laura, Madkaikar Manisha, Bobby Gaspar |
| A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report. Iranian journal of allergy, asthma, and immunology 2015 Aug 14 (4): 457-61. Nourizadeh Maryam, Borte Stephan, Fazlollahi MohammadReza, Hammarström Lennart, Pourpak Zah |
| High Rates of Positive Severe Combined Immunodeficiency Screening Among Newborns with Severe Intestinal Failure. JPEN. Journal of parenteral and enteral nutrition 2018 3 42 (1): 239-246. Fullerton Brenna S, Velazco Cristine S, Hong Charles R, Carey Alexandra N, Jaksic T |
| Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis. American journal of human genetics 2019 8 105 (3): 549-561. Bosticardo Marita, Yamazaki Yasuhiro, Cowan Jennifer, Giardino Giuliana, Corsino Cristina, Scalia Giulia, Prencipe Rosaria, Ruffner Melanie, Hill David A, Sakovich Inga, Yemialyanava Irma, Tam Jonathan S, Padem Nurcicek, Elder Melissa E, Sleasman John W, Perez Elena, Niebur Hana, Seroogy Christine M, Sharapova Svetlana, Gebbia Jennifer, Kleiner Gary Ira, Peake Jane, Abbott Jordan K, Gelfand Erwin W, Crestani Elena, Biggs Catherine, Butte Manish J, Hartog Nicholas, Hayward Anthony, Chen Karin, Heimall Jennifer, Seeborg Filiz, Bartnikas Lisa M, Cooper Megan A, Pignata Claudio, Bhandoola Avinash, Notarangelo Luigi |
| Genetic mutations and immunological features of severe combined immunodeficiency patients in Iran. Immunology letters 2019 Oct . Shahbazi Zahra, Yazdani Reza, Shahkarami Sepideh, Shahbazi Shirin, Hamid Mohammad, Sadeghi-Shabestari Mahnaz, Momen Tooba, Aleyasin Soheila, Esmaeilzadeh Hossein, Darougar Sepideh, Delavari Sama, Mahdaviani Seyed Alireza, Ahanchian Hamid, Behmanesh Fatemeh, Kiaee Fatemeh, Chavoshzade Zahra, Shariat Mansoureh, Keramatipour Mohammad, Rezaei Nima, Abolhassani Hassan, Parvaneh Nima, Mahdian Reza, Aghamohammadi Asgh |
| Hemophagocytic syndrome associated with Mycobacterium bovis in a patient with X-SCID: a case report. BMC infectious diseases 2020 9 20 (1): 711. Shi Buyun, Chen Ming, Xia Zhi, Xiao Shuna, Tang Wen, Qin Chenguang, Cheng Ying, Huang Tao, Huang Chengjiao, Li Yong, Xu H |
| Primary Immunodeficiency Diseases and Bacillus Calmette-Guérin (BCG)-Vaccine-Derived Complications: A Systematic Review. The journal of allergy and clinical immunology. In practice 2020 2 8 (4): 1371-1386. Fekrvand Saba, Yazdani Reza, Olbrich Peter, Gennery Andrew, Rosenzweig Sergio D, Condino-Neto Antonio, Azizi Gholamreza, Rafiemanesh Hosein, Hassanpour Gholamreza, Rezaei Nima, Abolhassani Hassan, Aghamohammadi Asgh |
| Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada. International journal of neonatal screening 2020 10 4 (2): 19. Thompson J Robert, Greenberg Cheryl R, Dick Andrew, Jilkina Olga, Kwan Luvinia, Rubin Tamar S, Zelinski Teresa, Schroeder Marlis L, Van Caeseele Pa |
| Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations. Journal of clinical immunology 2021 5 41 (6): 1291-1302. Lugo-Reyes Saul Oswaldo, Pastor Nina, González-Serrano Edith, Yamazaki-Nakashimada Marco Antonio, Scheffler-Mendoza Selma, Berron-Ruiz Laura, Wakida Guillermo, Nuñez-Nuñez Maria Enriqueta, Macias-Robles Ana Paola, Staines-Boone Aide Tamara, Venegas-Montoya Edna, Alaez-Verson Carmen, Molina-Garay Carolina, Flores-Lagunes Luis Leonardo, Carrillo-Sanchez Karol, Niemela Julie, Rosenzweig Sergio D, Gaytan Paul, Yañez Jorge A, Martinez-Duncker Ivan, Notarangelo Luigi D, Espinosa-Padilla Sara, Cruz-Munoz Mario Ernes |
| Investigation of Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID) Variants in a Cohort of Three MENA Region Horse Breeds. Genes 2021 12 12 (12): . Ayad Abdelhanine, Almarzook Saria, Besseboua Omar, Aissanou Sofiane, Piórkowska Katarzyna, Musia? Adrianna D, Stefaniuk-Szmukier Monika, Ropka-Molik Katarzy |
| FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia. The Journal of allergy and clinical immunology 2022 Aug . Ghosh Rajarshi, Bosticardo Marita, Singh Sunita, Similuk Morgan, Delmonte Ottavia M, Pala Francesca, Peng Christine, Jodarski Colleen, Keller Michael D, Chinn Ivan K, Groves Andrew K, Notarangelo Luigi D, Walkiewicz Magdalena A, Chinen Javier, Bundy Vanes |
| [Analysis of a child with severe combined immunodeficiency due to variants of DCLRE1C gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 7 39 (7): 743-748. Xu Xiaowei, Yan Dandan, Yin Jing, Zheng Jie, Wang Xuetao, Shu Jian |
| Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency. Journal of clinical immunology 2022 4 42 (5): 1036-1050. Ozturk Elif, Catak Mehmet Cihangir, Kiykim Ayca, Baser Dilek, Bilgic Eltan Sevgi, Yalcin Koray, Kasap Nurhan, Nain Ercan, Bulutoglu Alper, Akgun Gamze, Can Yasemin, Sefer Asena Pinar, Babayeva Royala, Caki-Kilic Suar, Tezcan Karasu Gulsun, Yesilipek Akif, Ozen Ahmet, Karakoc-Aydiner Elif, Baris Sa |
| Diagnosis and Treatment of a Patient With Severe Combined Immunodeficiency Due to a Novel Homozygous Mutation in the IL-7R? Chain. Frontiers in immunology 2022 4 13 867837. Mansour Rana, Bsat Yasmin El, Fadel Anthony, El-Orfali Youmna, Noun Dolly, Tarek Nidale, Kabbara Nabil, Abboud Miguel, Massaad Michel |
| Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy. The American journal of surgical pathology 2022 1 46 (6): 846-853. Dannheim Katelyn, Ouahed Jodie, Field Michael, Snapper Scott, Raphael Bram P, Glover Sarah C, Bishop Phyllis R, Bhesania Natalie, Kamin Daniel, Thiagarajah Jay, Goldsmith Jeffrey |
| Immunological and molecular study in children with combined immunodeficiency. European annals of allergy and clinical immunology 2023 2 . Kholoussi S, Ramadan A, Kholoussi N, Ashaat E A, Fayez A G, Raouf H A, Helwa I, Esmaiel N N, Ghorab R, Abo-Shanab A |
| Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study. Journal of clinical immunology 2023 1 . Zeng Yuyuan, Ying Wenjing, Wang Wenjie, Hou Jia, Liu Luyao, Sun Bijun, Hui Xiaoying, Gu Yu, Song Xiaoyu, Wang Xiaochuan, Sun Jinqi |
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