Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 4 (of 4 Records) |
Query Trace: Omenn Syndrome[original query] |
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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 |
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 |
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 |
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT. Blood 2022 10 . Schuetz C, Gerke J, Ege M, Walter J, Kusters M, Worth A, Kanakry J A, Dimitrova D, Wolska-Ku?nierz B, Chen K, Unal E, Karakukcu M, Pashchenko O, Leiding J, Kawai T, Amrolia P J, Berghuis D, Buechner J, Buchbinder D, Cowan M J, Gennery A R, Güngör T, Heimall J, Miano M, Meyts I, Morris E C, Rivière J, Sharapova S O, Shaw P J, Slatter M, Honig M, Veys P, Fischer A, Cavazzana M, Moshous D, Schulz A, Albert M H, Puck J M, Lankester A C, Notarangelo L D, Neven |
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