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   Variation registry for  RAG1 deficiency


RAG1base mutation publications

[2009] [2008] [2006] [2005] [2002] [2001] [2000] [1999] [1998] [1997] [1996]

Search PubMed latest citations for RAG1 mutations

    2009

  • 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(4): 339-42 [PubMed abstract].

  • Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation.
    McCusker C, Hotte S, Le Deist F, Hirschfeld AF, Mitchell D, Nguyen VH, Gagnon R, Mazer B, Turvey SE, Jabado N
    Clin Immunol 2009(3): 447-55 [PubMed abstract].

  • Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.
    Al Balwi M, Al Ajaji S, Al Abdulkareem I, Hajeer A
    Cases J 2009(): 8391 [PubMed abstract].

  • Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.
    Gruber TA, Shah AJ, Hernandez M, Crooks GM, Abdel-Azim H, Gupta S, McKnight S, White D, Kapoor N, Kohn DB
    Pediatr Transplant 2009(2): 244-50 [PubMed abstract].

    2008

  • Omenn syndrome with mutation in RAG1 gene.
    Jaouad IC, Ouldim K, Ali Ou Alla S, Kriouile Y, Villa A, Sefiani A
    Indian J Pediatr 2008(9): 944-6 [PubMed abstract].

  • Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome.
    Ohm-Laursen L, Nielsen C, Fisker N, Lillevang ST, Barington T
    J Clin Immunol 2008(5): 588-92 [PubMed abstract].

  • An immunodeficiency disease with RAG mutations and granulomas.
    Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, Schneider DT, Manfras B, Pannicke U, Willemze R, Knüchel R, Göbel U, Schulz A, Borkhardt A, Friedrich W, Schwarz K, Niehues T
    N Engl J Med 2008(19): 2030-8 [PubMed abstract].

    2006

  • Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
    Kato M, Kimura H, Seki M, Shimada A, Hayashi Y, Morio T, Kumaki S, Ishida Y, Kamachi Y, Yachie A
    Allergol Int 2006(2): 115-9 [PubMed abstract].

  • RAG-dependent primary immunodeficiencies.
    Sobacchi C, Marrella V, Rucci F, Vezzoni P, Villa A
    Hum Mutat 2006(12): 1174-84 [PubMed abstract].

    2005

  • A variant of SCID with specific immune responses and predominance of gamma delta T cells.
    Ehl S, Schwarz K, Enders A, Duffner U, Pannicke U, Kühr J, Mascart F, Schmitt-Graeff A, Niemeyer C, Fisch P
    J Clin Invest 2005(11): 3140-8 [PubMed abstract].

  • 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(6): 2099-101 [PubMed abstract].

  • Novel RAG1 mutation in a case of severe combined immunodeficiency.
    Zhang J, Quintal L, Atkinson A, Williams B, Grunebaum E, Roifman CM
    Pediatrics 2005(3): e445-9 [PubMed abstract].

  • A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
    de Villartay JP, Lim A, Al-Mousa H, Dupont S, Déchanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F
    J Clin Invest 2005(11): 3291-9 [PubMed abstract].

    2002

  • 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(6): 2145-52 [PubMed abstract].

    2001

  • 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(9): 2772-6 [PubMed abstract].

  • V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
    Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K
    Blood 2001(1): 81-8 [PubMed abstract].

    2000

  • N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.
    Santagata S, Gomez CA, Sobacchi C, Bozzi F, Abinun M, Pasic S, Cortes P, Vezzoni P, Villa A
    Proc Natl Acad Sci U S A 2000(26): 14572-7 [PubMed abstract].

  • 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(1): 148-55 [PubMed abstract].

  • 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(1): 203-9 [PubMed abstract].

  • Prenatal diagnosis of RAG-deficient Omenn syndrome.
    Villa A, Bozzi F, Sobacchi C, Strina D, Fasth A, Pasic S, Notarangelo LD, Vezzoni P
    Prenat Diagn 2000(1): 56-9 [PubMed abstract].

    1999

  • Functional role of interleukin-4 (IL-4) and IL-7 in the development of X-linked severe combined immunodeficiency.
    Kumaki S, Ishii N, Minegishi M, Tsuchiya S, Cosman D, Sugamura K, Konno T
    Blood 1999(2): 607-12 [PubMed abstract].

    1998

  • 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(5): 885-96 [PubMed abstract].

    1997

  • In vitro cell death of activated lymphocytes in Omenn's syndrome.
    Brugnoni D, Airò P, Facchetti F, Blanzuoli L, Ugazio AG, Cattaneo R, Notarangelo LD
    Eur J Immunol 1997(11): 2765-73 [PubMed abstract].

    1996

  • RAG mutations in human B cell-negative SCID.
    Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S, Lieber MR, Bartram CR
    Science 1996(5284): 97-9 [PubMed abstract].