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Quoted phrase not found in phrase index: "Hypomorphic RAG1 Deficiency"
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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 …
RAG1 splicing mutation causes enhanced B cell differentiation and autoantibody production.
Min Q, Meng X, Zhou Q, Wang Y, Li Y, Lai N, Xiong E, Wang W, Yasuda S, Yu M, Zhang H, Sun J, Wang X, Wang JY. Min Q, et al. JCI Insight. 2021 Oct 8;6(19):e148887. doi: 10.1172/jci.insight.148887. JCI Insight. 2021. PMID: 34622798 Free PMC article.
Hypomorphic RAG1 or RAG2 mutations cause primary immunodeficiencies and can lead to autoimmunity, but the underlying mechanisms are elusive. We report here a patient carrying a c.116+2T>G homozygous splice site mutation in the first intron of RAG1, which l …
Hypomorphic RAG1 or RAG2 mutations cause primary immunodeficiencies and can lead to autoimmunity, but the underlying mechanism …
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.
Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y, Kaneda Y, Taga T, Hisakawa H, Miyaji R, Endo M, Oh-Ishi T, Kamachi Y, Akahane K, Kobayashi C, Tsuchida M, Morio T, Sasahara Y, Kumaki S, Ishigaki K, Yoshida M, Urabe T, Kobayashi N, Okimoto Y, Reichenbach J, Hashii Y, Tsuji Y, Kogawa K, Yamaguchi S, Kanegane H, Miyawaki T, Yamada M, Ariga T, Nonoyama S. Morinishi Y, et al. J Pediatr. 2009 Dec;155(6):829-33. doi: 10.1016/j.jpeds.2009.05.026. Epub 2009 Jul 22. J Pediatr. 2009. PMID: 19628217 Clinical Trial.
STUDY DESIGN: Real-time PCR based quantification of TRECs for 471 healthy control patients and 18 patients with SCID with various genetic abnormalities (IL2RG, JAK3, ADA, LIG4, RAG1) were performed, including patients with maternal T-cell engraftment (n = 4) and leaky T ce …
STUDY DESIGN: Real-time PCR based quantification of TRECs for 471 healthy control patients and 18 patients with SCID with various genetic ab …