240 related articles for article (PubMed ID: 26689875)
41. Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.
Patiroglu T; Akar HH; Gilmour K; Ozdemir MA; Bibi S; Henriquez F; Burns SO; Unal E
J Clin Immunol; 2014 Oct; 34(7):792-5. PubMed ID: 25104208
[TBL] [Abstract][Full Text] [Related]
42. More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.
Niehues T; Perez-Becker R; Schuetz C
Clin Immunol; 2010 May; 135(2):183-92. PubMed ID: 20172764
[TBL] [Abstract][Full Text] [Related]
43. A newly found homozygous mutation in recombination activating gene 1 in a patient with leaky severe combined immunodeficiency disorder.
Salari F; Zaremehrjardi F; Arshi S; Bemanian MH; Fallahpour M; Shokri S; Seif F; Movahedi M; Nabavi M
Mol Biol Rep; 2019 Dec; 46(6):6571-6575. PubMed ID: 31520268
[TBL] [Abstract][Full Text] [Related]
44. [Omenn Syndrome and DNA recombination defects].
Yachie A
Nihon Rinsho Meneki Gakkai Kaishi; 2017; 40(3):179-189. PubMed ID: 28747605
[TBL] [Abstract][Full Text] [Related]
45. Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
Karaatmaca B; Cagdas D; Esenboga S; Erman B; Tan C; Turul Ozgur T; Boztug K; van der Burg M; Sanal O; Tezcan I
Clin Exp Immunol; 2024 Feb; 215(2):160-176. PubMed ID: 37724703
[TBL] [Abstract][Full Text] [Related]
46. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
Corneo B; Moshous D; Güngör T; Wulffraat N; Philippet P; Le Deist FL; Fischer A; de Villartay JP
Blood; 2001 May; 97(9):2772-6. PubMed ID: 11313270
[TBL] [Abstract][Full Text] [Related]
47. The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.
Noordzij JG; de Bruin-Versteeg S; Verkaik NS; Vossen JM; de Groot R; Bernatowska E; Langerak AW; van Gent DC; van Dongen JJ
Blood; 2002 Sep; 100(6):2145-52. PubMed ID: 12200379
[TBL] [Abstract][Full Text] [Related]
48. A variant of RAG1 gene identified in severe combined immunodeficiency: a case report.
Zhang X; Kang X; Yang M; Cai Z; Song Y; Zhou X; Cao J; Wang C; Huang K; Peng Y; He J; Xiao Z
BMC Pediatr; 2023 Feb; 23(1):56. PubMed ID: 36732712
[TBL] [Abstract][Full Text] [Related]
49. Severe combined immunodeficiency in Frisian Water Dogs caused by a RAG1 mutation.
Verfuurden B; Wempe F; Reinink P; van Kooten PJ; Martens E; Gerritsen R; Vos JH; Rutten VP; Leegwater PA
Genes Immun; 2011 Jun; 12(4):310-3. PubMed ID: 21293384
[TBL] [Abstract][Full Text] [Related]
50. SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.
Schuetz C; Neven B; Dvorak CC; Leroy S; Ege MJ; Pannicke U; Schwarz K; Schulz AS; Hoenig M; Sparber-Sauer M; Gatz SA; Denzer C; Blanche S; Moshous D; Picard C; Horn BN; de Villartay JP; Cavazzana M; Debatin KM; Friedrich W; Fischer A; Cowan MJ
Blood; 2014 Jan; 123(2):281-9. PubMed ID: 24144642
[TBL] [Abstract][Full Text] [Related]
51. A Large Cohort of RAG1/2-Deficient SCID Patients-Clinical, Immunological, and Prognostic Analysis.
Greenberg-Kushnir N; Lee YN; Simon AJ; Lev A; Marcus N; Abuzaitoun O; Somech R; Stauber T
J Clin Immunol; 2020 Jan; 40(1):211-222. PubMed ID: 31838659
[TBL] [Abstract][Full Text] [Related]
52. N-terminal truncated human RAG1 proteins can direct T-cell receptor but not immunoglobulin gene rearrangements.
Noordzij JG; Verkaik NS; Hartwig NG; de Groot R; van Gent DC; van Dongen JJ
Blood; 2000 Jul; 96(1):203-9. PubMed ID: 10891452
[TBL] [Abstract][Full Text] [Related]
53. Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.
Karaca NE; Aksu G; Genel F; Gulez N; Can S; Aydinok Y; Aksoylar S; Karaca E; Altuglu I; Kutukculer N
Clin Exp Med; 2009 Dec; 9(4):339-42. PubMed ID: 19458910
[TBL] [Abstract][Full Text] [Related]
54. A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction.
Wong SY; Lu CP; Roth DB
J Immunol; 2008 Sep; 181(6):4124-30. PubMed ID: 18768869
[TBL] [Abstract][Full Text] [Related]
55. [Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome].
Xu Y; Chen Y; Chen H; Zeng H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):38-43. PubMed ID: 26829731
[TBL] [Abstract][Full Text] [Related]
56. A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.
van der Burg M; van Veelen LR; Verkaik NS; Wiegant WW; Hartwig NG; Barendregt BH; Brugmans L; Raams A; Jaspers NG; Zdzienicka MZ; van Dongen JJ; van Gent DC
J Clin Invest; 2006 Jan; 116(1):137-45. PubMed ID: 16357942
[TBL] [Abstract][Full Text] [Related]
57. Novel RAG1 mutation in a case of severe combined immunodeficiency.
Zhang J; Quintal L; Atkinson A; Williams B; Grunebaum E; Roifman CM
Pediatrics; 2005 Sep; 116(3):e445-9. PubMed ID: 16061569
[TBL] [Abstract][Full Text] [Related]
58. Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency.
Lev A; Simon AJ; Ben-Ari J; Takagi D; Stauber T; Trakhtenbrot L; Rosenthal E; Rechavi G; Amariglio N; Somech R
Clin Exp Immunol; 2014 Jun; 176(3):380-6. PubMed ID: 24666246
[TBL] [Abstract][Full Text] [Related]
59. Mutation c.256_257delAA in RAG1 Gene in Polish Children with Severe Combined Immunodeficiency: Diversity of Clinical Manifestations.
Szaflarska A; Rutkowska-Zapała M; Kotula M; Gruca A; Grabowska A; Lenart M; Surman M; Trzyna E; Mordel A; Pituch-Noworolska A; Siedlar M
Arch Immunol Ther Exp (Warsz); 2016 Dec; 64(Suppl 1):177-183. PubMed ID: 28083621
[TBL] [Abstract][Full Text] [Related]
60. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
Gennery AR; Slatter MA; Rice J; Hoefsloot LH; Barge D; McLean-Tooke A; Montgomery T; Goodship JA; Burt AD; Flood TJ; Abinun M; Cant AJ; Johnson D
Clin Exp Immunol; 2008 Jul; 153(1):75-80. PubMed ID: 18505430
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]