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1999 1
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87 results

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Page 1
B cell abnormalities and autoantibody production in patients with partial RAG deficiency.
Min Q, Csomos K, Li Y, Dong L, Hu Z, Meng X, Yu M, Walter JE, Wang JY. Min Q, et al. Front Immunol. 2023 Jul 5;14:1155380. doi: 10.3389/fimmu.2023.1155380. eCollection 2023. Front Immunol. 2023. PMID: 37475856 Free PMC article. Review.
Mutations in the recombination activating gene 1 (RAG1) and RAG2 in humans are associated with a broad spectrum of clinical phenotypes, from severe combined immunodeficiency to immune dysregulation. Partial (hypomorphic) RAG deficiency (pRD) in particular, fr …
Mutations in the recombination activating gene 1 (RAG1) and RAG2 in humans are associated with a broad spectrum of clinical ph …
Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation.
Giblin W, Chatterji M, Westfield G, Masud T, Theisen B, Cheng HL, DeVido J, Alt FW, Ferguson DO, Schatz DG, Sekiguchi J. Giblin W, et al. Blood. 2009 Mar 26;113(13):2965-75. doi: 10.1182/blood-2008-07-165167. Epub 2009 Jan 6. Blood. 2009. PMID: 19126872 Free PMC article.
We generated a knockin mouse model harboring the RAG1-S723C hypomorphic mutation and examined the immune system in this fully in vivo setting. ...Distinct from RAG nullizygosity, the RAG1-S723C hypomorph results in aberrant DNA double-strand breaks wit …
We generated a knockin mouse model harboring the RAG1-S723C hypomorphic mutation and examined the immune system in this fully …
Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration.
Maina V, Marrella V, Mantero S, Cassani B, Fontana E, Anselmo A, Del Prete A, Sozzani S, Vezzoni P, Poliani PL, Villa A. Maina V, et al. J Leukoc Biol. 2013 Dec;94(6):1221-30. doi: 10.1189/jlb.0713365. Epub 2013 Sep 19. J Leukoc Biol. 2013. PMID: 24052573
OS is a severe combined immunodeficiency characterized by erythrodermia and protracted diarrhea as a result of infiltration of oligoclonal-activated T cells, caused by hypomorphic mutations in RAGs. The RAG2(R229Q) mouse model fully recapitulates the clinical OS phe …
OS is a severe combined immunodeficiency characterized by erythrodermia and protracted diarrhea as a result of infiltration of oligoclonal-a …
Transplantation after CD45-ADC corrects Rag1 immunodeficiency in congenic and haploidentical settings.
Pala F, Corsino C, Calzoni E, Villa A, Pittaluga S, Palchaudhuri R, Bosticardo M, Notarangelo LD. Pala F, et al. J Allergy Clin Immunol. 2024 Jan;153(1):341-348.e3. doi: 10.1016/j.jaci.2023.07.017. Epub 2023 Aug 9. J Allergy Clin Immunol. 2024. PMID: 37567393
BACKGROUND: Mutations in the recombinase-activating genes 1 and 2 (RAG1, RAG2) cause a spectrum of phenotypes, ranging from severe combined immune deficiency to combined immune deficiency with immune dysregulation (CID-ID). ...CONCLUSIONS: Conditioning with CD45-ADC …
BACKGROUND: Mutations in the recombinase-activating genes 1 and 2 (RAG1, RAG2) cause a spectrum of phenotypes, ranging from se …
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 …
Patients with hypomorphic mutations in the RAG1 or RAG2 gene present with either Omenn syndrome or atypical combined im …
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 immuni …
Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency.
Castiello MC, Brandas C, Ferrari S, Porcellini S, Sacchetti N, Canarutto D, Draghici E, Merelli I, Barcella M, Pelosi G, Vavassori V, Varesi A, Jacob A, Scala S, Basso Ricci L, Paulis M, Strina D, Di Verniere M, Sergi Sergi L, Serafini M, Holland SM, Bergerson JRE, De Ravin SS, Malech HL, Pala F, Bosticardo M, Brombin C, Cugnata F, Calzoni E, Crooks GM, Notarangelo LD, Genovese P, Naldini L, Villa A. Castiello MC, et al. Sci Transl Med. 2024 Feb 7;16(733):eadh8162. doi: 10.1126/scitranslmed.adh8162. Epub 2024 Feb 7. Sci Transl Med. 2024. PMID: 38324638
Whereas integration into intron 1 of RAG1 achieved suboptimal correction, in-frame insertion into exon 2 drove physiologic human RAG1 expression and activity, allowing disruption of the dominant-negative effects of unrepaired hypomorphic alleles. Enhanced HDR …
Whereas integration into intron 1 of RAG1 achieved suboptimal correction, in-frame insertion into exon 2 drove physiologic human R …
Novel RAG1 mutation and the occurrence of mycobacterial and Chromobacterium violaceum infections in a case of leaky SCID.
Khan TA, Iqbal A, Rahman H, Cabral-Marques O, Ishfaq M, Muhammad N. Khan TA, et al. Microb Pathog. 2017 Aug;109:114-119. doi: 10.1016/j.micpath.2017.05.033. Epub 2017 May 25. Microb Pathog. 2017. PMID: 28552805
Severe combined immunodeficiency (SCID) is a potentially fatal primary immunodeficiency (PID) that is caused by mutations in genes such as IL2RG, JAK3, IL7RA, RAG1, RAG2, and ADA. The products of these genes are involved in the development of several immune cells su …
Severe combined immunodeficiency (SCID) is a potentially fatal primary immunodeficiency (PID) that is caused by mutations in genes such as I …
Hypomorphic Rag1 mutations alter the preimmune repertoire at early stages of lymphoid development.
Ott de Bruin LM, Bosticardo M, Barbieri A, Lin SG, Rowe JH, Poliani PL, Ching K, Eriksson D, Landegren N, Kämpe O, Manis JP, Notarangelo LD. Ott de Bruin LM, et al. Blood. 2018 Jul 19;132(3):281-292. doi: 10.1182/blood-2017-12-820985. Epub 2018 May 9. Blood. 2018. PMID: 29743177 Free PMC article.
Hypomorphic RAG1 mutations allowing residual T- and B-cell development have been found in patients presenting with delayed-onset combined immune deficiency with granulomas and/or autoimmunity (CID-G/AI) and abnormalities of the peripheral T- and B-cell repertoire. T …
Hypomorphic RAG1 mutations allowing residual T- and B-cell development have been found in patients presenting with delayed-ons …
87 results