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Quoted phrase not found in phrase index: "Hypomorphic RAG1 Deficiency"
Page 1
RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.
Bosticardo M, Pala F, Notarangelo LD. Bosticardo M, et al. Eur J Immunol. 2021 May;51(5):1028-1038. doi: 10.1002/eji.202048880. Epub 2021 Mar 22. Eur J Immunol. 2021. PMID: 33682138 Free PMC article. Review.
The RAG1 and RAG2 proteins initiate the process of V(D)J recombination and therefore play an essential role in adaptive immunity. While null mutations in the RAG genes cause severe combined immune deficiency with lack of T and B cells (T(-) B(-) SCID) and susceptibi …
The RAG1 and RAG2 proteins initiate the process of V(D)J recombination and therefore play an essential role in adaptive immunity. Whi …
Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency.
Delmonte OM, Villa A, Notarangelo LD. Delmonte OM, et al. Blood. 2020 Feb 27;135(9):610-619. doi: 10.1182/blood.2019000923. Blood. 2020. PMID: 31942628 Free PMC article. Review.
Traditionally, primary immune deficiencies have been defined based on increased susceptibility to recurrent and/or severe infections. ...Hypomorphic mutations in the recombination activating genes RAG1 and RAG2 represent the prototype of the broad spectrum of …
Traditionally, primary immune deficiencies have been defined based on increased susceptibility to recurrent and/or severe infections. …
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients.
Cifaldi C, Rivalta B, Amodio D, Mattia A, Pacillo L, Di Cesare S, Chiriaco M, Ursu GM, Cotugno N, Giancotta C, Manno EC, Santilli V, Zangari P, Federica G, Palumbo G, Merli P, Palma P, Rossi P, Di Matteo G, Locatelli F, Finocchi A, Cancrini C. Cifaldi C, et al. J Clin Immunol. 2022 Jan;42(1):130-145. doi: 10.1007/s10875-021-01130-3. Epub 2021 Oct 18. J Clin Immunol. 2022. PMID: 34664192 Free PMC article.
METHODS: Immunological and genetic features were investigated by multiparametric flow cytometry and by Sanger or next generation sequencing (NGS) as appropriate. RESULTS: Patients represented a broad spectrum of RAG deficiencies: SCID, OS, LS/AS, and CID. Three novel mutat …
METHODS: Immunological and genetic features were investigated by multiparametric flow cytometry and by Sanger or next generation sequencing …
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.
Schuetz C, Gerke J, Ege M, Walter J, Kusters M, Worth A, Kanakry JA, Dimitrova D, Wolska-Kuśnierz B, Chen K, Unal E, Karakukcu M, Pashchenko O, Leiding J, Kawai T, Amrolia PJ, Berghuis D, Buechner J, Buchbinder D, Cowan MJ, Gennery AR, Güngör T, Heimall J, Miano M, Meyts I, Morris EC, Rivière J, Sharapova SO, Shaw PJ, Slatter M, Honig M, Veys P, Fischer A, Cavazzana M, Moshous D, Schulz A, Albert MH, Puck JM, Lankester AC, Notarangelo LD, Neven B. Schuetz C, et al. Blood. 2023 Feb 16;141(7):713-724. doi: 10.1182/blood.2022017667. Blood. 2023. PMID: 36279417 Free PMC article.
Patients with hypomorphic mutations in the RAG1 or RAG2 gene present with either Omenn syndrome or atypical combined immunodeficiency with a wide phenotypic range. Hematopoietic stem cell transplantation (HSCT) is potentially curative, but data are scarce. We report …
Patients with hypomorphic mutations in the RAG1 or RAG2 gene present with either Omenn syndrome or atypical combined immunodef …
Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
Meshaal SS, El Hawary RE, Abd Elaziz DS, Eldash A, Alkady R, Lotfy S, Mauracher AA, Opitz L, Pachlopnik Schmid J, van der Burg M, Chou J, Galal NM, Boutros JA, Geha R, Elmarsafy AM. Meshaal SS, et al. Clin Exp Immunol. 2019 Feb;195(2):202-212. doi: 10.1111/cei.13222. Epub 2018 Nov 4. Clin Exp Immunol. 2019. PMID: 30307608 Free PMC article.
Mutations affecting recombination activation genes RAG1 and RAG2 are associated with variable phenotypes, depending on the residual recombinase activity. The aim of this study is to describe a variety of clinical phenotypes in RAG-deficient patients from the highly …
Mutations affecting recombination activation genes RAG1 and RAG2 are associated with variable phenotypes, depending on the residual r …
Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations.
Castiello MC, Di Verniere M, Draghici E, Fontana E, Penna S, Sereni L, Zecchillo A, Minuta D, Uva P, Zahn M, Gil-Farina I, Annoni A, Iaia S, Ott de Bruin LM, Notarangelo LD, Pike-Overzet K, Staal FJT, Villa A, Capo V. Castiello MC, et al. Front Immunol. 2023 Nov 13;14:1268620. doi: 10.3389/fimmu.2023.1268620. eCollection 2023. Front Immunol. 2023. PMID: 38022635 Free PMC article.
Lentiviral vector (LV) gene therapy (GT) has been proposed as an alternative treatment to the standard hematopoietic stem cell transplant and a clinical trial for RAG1 SCID patients recently started. However, GT in patients with hypomorphic RAG mutations poses addit …
Lentiviral vector (LV) gene therapy (GT) has been proposed as an alternative treatment to the standard hematopoietic stem cell transplant an …
Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.
Lugo-Reyes SO, Pastor N, González-Serrano E, Yamazaki-Nakashimada MA, Scheffler-Mendoza S, Berron-Ruiz L, Wakida G, Nuñez-Nuñez ME, Macias-Robles AP, Staines-Boone AT, Venegas-Montoya E, Alaez-Verson C, Molina-Garay C, Flores-Lagunes LL, Carrillo-Sanchez K, Niemela J, Rosenzweig SD, Gaytan P, Yañez JA, Martinez-Duncker I, Notarangelo LD, Espinosa-Padilla S, Cruz-Munoz ME. Lugo-Reyes SO, et al. J Clin Immunol. 2021 Aug;41(6):1291-1302. doi: 10.1007/s10875-021-01052-0. Epub 2021 May 5. J Clin Immunol. 2021. PMID: 33954879 Free PMC article.
A group of previously unrecognized clinical phenotypes associated with granulomata and/or autoimmunity have been described as a consequence of hypomorphic mutations. Here, we present six patients from unrelated families with missense variants in RAG1 or RAG2. ...Mor …
A group of previously unrecognized clinical phenotypes associated with granulomata and/or autoimmunity have been described as a consequence …