BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

323 related articles for article (PubMed ID: 24418478)

  • 21. Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.
    Matangkasombut P; Pichavant M; Saez DE; Giliani S; Mazzolari E; Finocchi A; Villa A; Sobacchi C; Cortes P; Umetsu DT; Notarangelo LD
    Blood; 2008 Jan; 111(1):271-4. PubMed ID: 17890453
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Omenn syndrome: a disorder of Rag1 and Rag2 genes.
    Villa A; Santagata S; Bozzi F; Imberti L; Notarangelo LD
    J Clin Immunol; 1999 Mar; 19(2):87-97. PubMed ID: 10226883
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
    Matthews AG; Briggs CE; Yamanaka K; Small TN; Mooster JL; Bonilla FA; Oettinger MA; Butte MJ
    PLoS One; 2015; 10(4):e0121489. PubMed ID: 25849362
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.
    Kutukculer N; Gulez N; Karaca NE; Aksu G; Berdeli A
    Ital J Pediatr; 2012 Mar; 38():8. PubMed ID: 22424479
    [TBL] [Abstract][Full Text] [Related]  

  • 25. HyperIgE in hypomorphic recombination-activating gene defects.
    Castiello MC; Brandas C; Capo V; Villa A
    Curr Opin Immunol; 2023 Feb; 80():102279. PubMed ID: 36529093
    [TBL] [Abstract][Full Text] [Related]  

  • 26. RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.
    Bosticardo M; Pala F; Notarangelo LD
    Eur J Immunol; 2021 May; 51(5):1028-1038. PubMed ID: 33682138
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.
    Mou W; Yang Z; Wang X; Hei M; Wang Y; Gui J
    Immunogenetics; 2023 Aug; 75(4):385-393. PubMed ID: 37269334
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Recombinase-activating gene 1 immunodeficiency: different immunological phenotypes in three siblings.
    Pasic S; Djuricic S; Ristic G; Slavkovic B
    Acta Paediatr; 2009 Jun; 98(6):1062-4. PubMed ID: 19243569
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Omenn syndrome caused by a novel homozygous mutation in recombination activating gene 1.
    Benhsaien I; Essadssi S; Elkhattabi L; Bakhchane A; Abdelghaffar H; Bousfiha AA; Badou A; Barakat A
    Immunobiology; 2021 May; 226(3):152090. PubMed ID: 33964732
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Clinical characteristics of human recombination activating gene 1 mutations in 8 immunodeficiency patients with diverse phenotypes].
    Yu G; Wang WJ; Liu DR; Tao ZF; Hui XY; Hou J; Sun JQ; Wang XC
    Zhonghua Er Ke Za Zhi; 2018 Mar; 56(3):186-191. PubMed ID: 29518828
    [No Abstract]   [Full Text] [Related]  

  • 31. RAG1 deficiency may present clinically as selective IgA deficiency.
    Kato T; Crestani E; Kamae C; Honma K; Yokosuka T; Ikegawa T; Nishida N; Kanegane H; Wada T; Yachie A; Ohara O; Morio T; Notarangelo LD; Imai K; Nonoyama S
    J Clin Immunol; 2015 Apr; 35(3):280-8. PubMed ID: 25739914
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.
    Wada T; Takei K; Kudo M; Shimura S; Kasahara Y; Koizumi S; Kawa-Ha K; Ishida Y; Imashuku S; Seki H; Yachie A
    Clin Exp Immunol; 2000 Jan; 119(1):148-55. PubMed ID: 10606976
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Identification of anti-herpes simplex virus antibody-producing B cells in a patient with an atypical RAG1 immunodeficiency.
    Kumaki S; Villa A; Asada H; Kawai S; Ohashi Y; Takahashi M; Hakozaki I; Nitanai E; Minegishi M; Tsuchiya S
    Blood; 2001 Sep; 98(5):1464-8. PubMed ID: 11520796
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Characterization of T and B cell repertoire diversity in patients with RAG deficiency.
    Lee YN; Frugoni F; Dobbs K; Tirosh I; Du L; Ververs FA; Ru H; Ott de Bruin L; Adeli M; Bleesing JH; Buchbinder D; Butte MJ; Cancrini C; Chen K; Choo S; Elfeky RA; Finocchi A; Fuleihan RL; Gennery AR; El-Ghoneimy DH; Henderson LA; Al-Herz W; Hossny E; Nelson RP; Pai SY; Patel NC; Reda SM; Soler-Palacin P; Somech R; Palma P; Wu H; Giliani S; Walter JE; Notarangelo LD
    Sci Immunol; 2016 Dec; 1(6):. PubMed ID: 28783691
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The Clinical and Genetic Spectrum of 82 Patients With
    Sharapova SO; Skomska-Pawliszak M; Rodina YA; Wolska-Kuśnierz B; Dabrowska-Leonik N; Mikołuć B; Pashchenko OE; Pasic S; Freiberger T; Milota T; Formánková R; Szaflarska A; Siedlar M; Avčin T; Markelj G; Ciznar P; Kalwak K; Kołtan S; Jackowska T; Drabko K; Gagro A; Pac M; Naumova E; Kandilarova S; Babol-Pokora K; Varabyou DS; Barendregt BH; Raykina EV; Varlamova TV; Pavlova AV; Grombirikova H; Debeljak M; Mersiyanova IV; Bondarenko AV; Chernyshova LI; Kostyuchenko LV; Guseva MN; Rascon J; Muleviciene A; Preiksaitiene E; Geier CB; Leiss-Piller A; Yamazaki Y; Kawai T; Walter JE; Kondratenko IV; Šedivá A; van der Burg M; Kuzmenko NB; Notarangelo LD; Bernatowska E; Aleinikova OV
    Front Immunol; 2020; 11():900. PubMed ID: 32655540
    [No Abstract]   [Full Text] [Related]  

  • 36. Partial V(D)J recombination activity leads to Omenn syndrome.
    Villa A; Santagata S; Bozzi F; Giliani S; Frattini A; Imberti L; Gatta LB; Ochs HD; Schwarz K; Notarangelo LD; Vezzoni P; Spanopoulou E
    Cell; 1998 May; 93(5):885-96. PubMed ID: 9630231
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Rag-1 mutations associated with B-cell-negative scid dissociate the nicking and transesterification steps of V(D)J recombination.
    Li W; Chang FC; Desiderio S
    Mol Cell Biol; 2001 Jun; 21(12):3935-46. PubMed ID: 11359901
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.
    Wada T; Toma T; Okamoto H; Kasahara Y; Koizumi S; Agematsu K; Kimura H; Shimada A; Hayashi Y; Kato M; Yachie A
    Blood; 2005 Sep; 106(6):2099-101. PubMed ID: 15845893
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome.
    van Til NP; Sarwari R; Visser TP; Hauer J; Lagresle-Peyrou C; van der Velden G; Malshetty V; Cortes P; Jollet A; Danos O; Cassani B; Zhang F; Thrasher AJ; Fontana E; Poliani PL; Cavazzana M; Verstegen MM; Villa A; Wagemaker G
    J Allergy Clin Immunol; 2014 Apr; 133(4):1116-23. PubMed ID: 24332219
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.