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RAG1 Reversion Mosaicism in a Patient with Omenn Syndrome
被引:16
作者:

Crestani, Elena
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA

Choo, Sharon
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp, Dept Allergy & Immunol, Parkville, Vic 3052, Australia Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA

Frugoni, Francesco
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA

Lee, Yu Nee
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h-index: 0
机构:
Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA

Richards, Stephanie
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h-index: 0
机构:
Royal Childrens Hosp, Dept Allergy & Immunol, Parkville, Vic 3052, Australia Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA

Smart, Joanne
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h-index: 0
机构:
Royal Childrens Hosp, Dept Allergy & Immunol, Parkville, Vic 3052, Australia Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA

Notarangelo, Luigi D.
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h-index: 0
机构:
Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA
机构:
[1] Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA
[2] Royal Childrens Hosp, Dept Allergy & Immunol, Parkville, Vic 3052, Australia
关键词:
Omenn syndrome;
RAG1;
somatic reversion;
severe combined immune deficiency;
T cell repertoire;
SEVERE COMBINED IMMUNODEFICIENCY;
SOMATIC MOSAICISM;
T-CELLS;
DEFICIENCY;
PHENOTYPE;
MUTATION;
D O I:
10.1007/s10875-014-0051-2
中图分类号:
R392 [医学免疫学];
Q939.91 [免疫学];
学科分类号:
100102 ;
摘要:
To identify mechanisms of disease in a child born to consanguineous parents, who presented with Omenn syndrome (OS) and was found to carry a heterozygous RAG1 mutation in peripheral blood DNA. Mutation analysis was performed on whole blood and buccal swab DNA. Recombination activity of the mutant RAG1 protein and diversity of T cell repertoire were tested. Apparent heterozygosity for a novel, functionally null RAG1 mutation in peripheral blood DNA from a patient with OS was shown to be secondary to true somatic reversion. Analysis of T cell repertoire demonstrated expression of various TCRBV families, but an overall restricted pattern. This is the first case of true somatic reversion of a RAG1 mutation in a patient with OS. The reversion event likely occurred at a stage where only a limited pool of T cell progenitors capable of performing V(D)J recombination could be generated. This work emphasizes the importance of performing functional studies to investigate the significance of novel genetic variants, and to consider somatic reversion as a possible disease modifier in SCID.
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页码:551 / 554
页数:4
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- [1] Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency[J]. NATURE GENETICS, 1996, 13 (03) : 290 - 295Hirschhorn, R论文数: 0 引用数: 0 h-index: 0机构: NIH,NATL CTR HUMAN GENOME RES,BETHESDA,MD 20892Yang, DRX论文数: 0 引用数: 0 h-index: 0机构: NIH,NATL CTR HUMAN GENOME RES,BETHESDA,MD 20892Puck, JM论文数: 0 引用数: 0 h-index: 0机构: NIH,NATL CTR HUMAN GENOME RES,BETHESDA,MD 20892Huie, ML论文数: 0 引用数: 0 h-index: 0机构: NIH,NATL CTR HUMAN GENOME RES,BETHESDA,MD 20892Jiang, CK论文数: 0 引用数: 0 h-index: 0机构: NIH,NATL CTR HUMAN GENOME RES,BETHESDA,MD 20892Kurlandsky, LE论文数: 0 引用数: 0 h-index: 0机构: NIH,NATL CTR HUMAN GENOME RES,BETHESDA,MD 20892
- [2] Multiple Reversions of an IL2RG Mutation Restore T cell Function in an X-linked Severe Combined Immunodeficiency Patient[J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 (04) : 690 - 697Kawai, Tomoki论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, Japan论文数: 引用数: h-index:机构:Nishikomori, Ryuta论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, Japan论文数: 引用数: h-index:机构:Izawa, Kazushi论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, JapanMurakami, Tomohiko论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, JapanOkamoto, Shigefumi论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Biomed Innovat, Div Biomed Res, Lab Virol & Vaccinol, Osaka, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, JapanMori, Yasuko论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Div Clin Virol, Kobe, Hyogo 657, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, JapanNakagawa, Noriko论文数: 0 引用数: 0 h-index: 0机构: Japan Self Def Force Hosp Fukuoka, Dept Pediat, Kasuga, Fukuoka, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, JapanImai, Kohsuke论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Dev Biol & Pediat, Saitama, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, JapanNonoyama, Shigeaki论文数: 0 引用数: 0 h-index: 0机构: Natl Def Med Coll, Dept Pediat, Saitama, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, JapanWada, Taizo论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, JapanYachie, Akihiro论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, JapanOhmori, Katsuyuki论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Lab Med, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, JapanNakahata, Tatsutoshi论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Clin Applicat Dept, Ctr iPS Cell Res & Applicat, Inst Integrated Cell Mat Sci, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, JapanHeike, Toshio论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, Japan Kyoto Univ, Grad Sch Med, Dept Pediat, ShogoinSakyo Ku, Kyoto 6068507, Japan
- [3] A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency[J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 133 (04) : 1099 - +Lee, Yu Nee论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Div Immunol, Boston, MA USA Harvard Univ, Sch Med, Manton Ctr Orphan Dis Res, Boston, MA USA Harvard Univ, Sch Med, Div Immunol, Boston, MA USA论文数: 引用数: h-index:机构:Dobbs, Kerry论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Div Immunol, Boston, MA USA Harvard Univ, Sch Med, Manton Ctr Orphan Dis Res, Boston, MA USA Harvard Univ, Sch Med, Div Immunol, Boston, MA USAWalter, Jolan E.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Div Immunol, Boston, MA USA Harvard Univ, Sch Med, Manton Ctr Orphan Dis Res, Boston, MA USA Massachusetts Gen Hosp Children, Div Pediat Allergy Immunol, Boston, MA USA Harvard Univ, Sch Med, Div Immunol, Boston, MA USAGiliani, Silvia论文数: 0 引用数: 0 h-index: 0机构: Univ Brescia, A Nocivelli Inst Mol Med, Pediat Clin, Brescia, Italy Genet Sect, Dept Pathol Spedali Civili, Brescia, Italy Harvard Univ, Sch Med, Div Immunol, Boston, MA USAGennery, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: NHS Fdn Trust, Newcastle Upon Tyne Hosp, Dept Paediat Immunol, Newcastle Upon Tyne, Tyne & Wear, England Newcastle Univ, Inst Cellular Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Harvard Univ, Sch Med, Div Immunol, Boston, MA USAAl-Herz, Waleed论文数: 0 引用数: 0 h-index: 0机构: Kuwait Univ, Fac Med, Dept Pediat, Kuwait, Kuwait Harvard Univ, Sch Med, Div Immunol, Boston, MA USAHaddad, Elie论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Pediat, CHU St Justine Res Ctr, Montreal, PQ H3C 3J7, Canada Univ Montreal, Dept Microbiol Infectiol & Immunol, CHU St Justine Res Ctr, Montreal, PQ, Canada Harvard Univ, Sch Med, Div Immunol, Boston, MA USALeDeist, Francoise论文数: 0 引用数: 0 h-index: 0机构: Univ Montreal, Dept Pediat, CHU St Justine Res Ctr, Montreal, PQ H3C 3J7, Canada Univ Montreal, Dept Microbiol Infectiol & Immunol, CHU St Justine Res Ctr, Montreal, PQ, Canada Harvard Univ, Sch Med, Div Immunol, Boston, MA USABleesing, Jack H.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Hematol Oncol, Cincinnati, OH 45229 USA Harvard Univ, Sch Med, Div Immunol, Boston, MA USAHenderson, Lauren A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Div Immunol, Boston, MA USA Harvard Univ, Sch Med, Manton Ctr Orphan Dis Res, Boston, MA USA Harvard Univ, Sch Med, Div Immunol, Boston, MA USAPai, Sung-Yun论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Hematol Oncol, Boston, MA USA Harvard Univ, Sch Med, Div Immunol, Boston, MA USANelson, Robert P.论文数: 0 引用数: 0 h-index: 0机构: Indiana Univ, Sch Med, Div Hematol & Oncol, Indianapolis, IN USA Harvard Univ, Sch Med, Div Immunol, Boston, MA USAEl-Ghoneimy, Dalia H.论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Univ, Dept Pediat Allergy & Immunol, Childrens Hosp, Fac Med, Cairo, Egypt Harvard Univ, Sch Med, Div Immunol, Boston, MA USAEl-Feky, Reem A.论文数: 0 引用数: 0 h-index: 0机构: Ain Shams Univ, Dept Pediat Allergy & Immunol, Childrens Hosp, Fac Med, Cairo, Egypt Harvard Univ, Sch 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Boston, MA USA Harvard Univ, Sch Med, Div Immunol, Boston, MA USAPuck, Jennifer M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA UCSF Benioff Childrens Hosp, San Francisco, CA USA Harvard Univ, Sch Med, Div Immunol, Boston, MA USAPalma, Paolo论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, DPUO, Univ Dept Pediat, Rome, Italy Univ Roma Tor Vergata, Sch Med, Rome, Italy Harvard Univ, Sch Med, Div Immunol, Boston, MA USACancrini, Caterina论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Pediat Hosp, DPUO, Univ Dept Pediat, Rome, Italy Univ Roma Tor Vergata, Sch Med, Rome, Italy Harvard Univ, Sch Med, Div Immunol, Boston, MA USAChen, Karin论文数: 0 引用数: 0 h-index: 0机构: Univ Utah, Dept Pediat, Div Allergy Immunol & Rheumatol, Salt Lake City, UT USA Harvard Univ, Sch Med, Div Immunol, Boston, MA USAVihinen, Mauno论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Expt Med Sci, S-22100 Lund, Sweden Harvard Univ, Sch Med, Div Immunol, Boston, MA USAAlt, Frederick W.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Howard Hughes Med Inst, Program Cellular & Mol Med, Boston, MA USA Harvard Univ, Sch Med, Dept Genet, Boston, MA USA Harvard Univ, Sch Med, Div Immunol, Boston, MA USANotarangelo, Luigi D.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Div Immunol, Boston, MA USA Harvard Univ, Sch Med, Manton Ctr Orphan Dis Res, Boston, MA USA Harvard Univ, Sch Med, Div Immunol, Boston, MA USA
- [4] Somatic Mosaicism Caused by Monoallelic Reversion of a Mutation in T Cells of a Patient with ADA-SCID and the Effects of Enzyme Replacement Therapy on the Revertant Phenotype[J]. SCANDINAVIAN JOURNAL OF IMMUNOLOGY, 2011, 74 (05) : 471 - 481Moncada-Velez, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Dept Biol, Medellin, Colombia Univ Antioquia, Dept Microbiol & Parasitol, Medellin, ColombiaVelez-Ortega, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Dept Biol, Medellin, Colombia Univ Antioquia, Dept Microbiol & Parasitol, Medellin, ColombiaOrrego, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Dept Microbiol & Parasitol, Medellin, Colombia Univ Antioquia, Dept Microbiol & Parasitol, Medellin, ColombiaSantisteban, I.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Med, Durham, NC 27710 USA Duke Univ, Med Ctr, Dept Biochemestry, Durham, NC USA Univ Antioquia, Dept Microbiol & Parasitol, Medellin, ColombiaJagadeesh, J.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet & Mol Biol Branch, Bethesda, MD 20892 USA Univ Antioquia, Dept Microbiol & Parasitol, Medellin, ColombiaOlivares, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Dept Microbiol & Parasitol, Medellin, Colombia Univ Antioquia, Dept Microbiol & Parasitol, Medellin, ColombiaOlaya, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Inst Patol, Medellin, Colombia Univ Antioquia, Dept Microbiol & Parasitol, Medellin, Colombia论文数: 引用数: h-index:机构:Candotti, F.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Genet & Mol Biol Branch, Bethesda, MD 20892 USA Univ Antioquia, Dept Microbiol & Parasitol, Medellin, Colombia论文数: 引用数: h-index:机构:
- [5] Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience[J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2014, 133 (04) : 1092 - 1098Shearer, William T.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USADunn, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Pediat Allergy Immunol & Blood & Marrow Trans, Benioff Childrens Hosp, San Francisco, CA 94143 USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USANotarangelo, Luigi D.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Div Biostat, Ctr Int Blood & Marrow Transplant Res, Milwaukee, WI 53226 USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USADvorak, Christopher C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Pediat Allergy Immunol & Blood & Marrow Trans, Benioff Childrens Hosp, San Francisco, CA 94143 USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAPuck, Jennifer M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Pediat Allergy Immunol & Blood & Marrow Trans, Benioff Childrens Hosp, San Francisco, CA 94143 USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USALogan, Brent R.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Childrens Hosp Boston, Div Immunol, Boston, MA USA Harvard Univ, Sch Med, Childrens Hosp Boston, Manton Ctr Orphan Dis Res, Boston, MA USA Harvard Univ, Sch Med, Harvard Stem Cell Inst, Boston, MA USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAGriffith, Linda M.论文数: 0 引用数: 0 h-index: 0机构: NIAID, Div Allergy Immunol & Transplantat, NIH, Bethesda, MD 20892 USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAKohn, Donald B.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Microbiol Immunol & Mol Genet, Los Angeles, CA USA Univ Calif Los Angeles, Dept Pediat, Los Angeles, CA USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAO'Reilly, Richard J.论文数: 0 引用数: 0 h-index: 0机构: Mem Sloan Kettering Canc Ctr, Dept Pediat, New York, NY 10021 USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USAFleisher, Thomas A.论文数: 0 引用数: 0 h-index: 0机构: NIH, Ctr Clin, Dept Lab Med, Bethesda, MD 20892 USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USA论文数: 引用数: h-index:机构:Martinez, Caridad A.论文数: 0 引用数: 0 h-index: 0机构: Texas Childrens Hosp, Baylor Coll Med, Ctr Cell & Gene Therapy, Ctr Canc, Houston, TX 77030 USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USABuckley, Rebecca H.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pediat & Immunol, Durham, NC 27706 USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USACowan, Morton J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Div Pediat Allergy Immunol & Blood & Marrow Trans, Benioff Childrens Hosp, San Francisco, CA 94143 USA Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Sect Immunol Allergy & Rheumatol, Houston, TX 77030 USA
- [6] Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1996, 335 (21) : 1563 - 1567Stephan, V论文数: 0 引用数: 0 h-index: 0机构: UNIV DUSSELDORF,DEPT PEDIAT,KINDERKLIN,D-40225 DUSSELDORF,GERMANYWahn, V论文数: 0 引用数: 0 h-index: 0机构: UNIV DUSSELDORF,DEPT PEDIAT,KINDERKLIN,D-40225 DUSSELDORF,GERMANYLeDeist, F论文数: 0 引用数: 0 h-index: 0机构: UNIV DUSSELDORF,DEPT PEDIAT,KINDERKLIN,D-40225 DUSSELDORF,GERMANYDirksen, U论文数: 0 引用数: 0 h-index: 0机构: UNIV DUSSELDORF,DEPT PEDIAT,KINDERKLIN,D-40225 DUSSELDORF,GERMANYBroker, B论文数: 0 引用数: 0 h-index: 0机构: UNIV DUSSELDORF,DEPT PEDIAT,KINDERKLIN,D-40225 DUSSELDORF,GERMANYMullerFleckenstein, I论文数: 0 引用数: 0 h-index: 0机构: UNIV DUSSELDORF,DEPT PEDIAT,KINDERKLIN,D-40225 DUSSELDORF,GERMANYHorneff, G论文数: 0 引用数: 0 h-index: 0机构: UNIV DUSSELDORF,DEPT PEDIAT,KINDERKLIN,D-40225 DUSSELDORF,GERMANYSchroten, H论文数: 0 引用数: 0 h-index: 0机构: UNIV DUSSELDORF,DEPT PEDIAT,KINDERKLIN,D-40225 DUSSELDORF,GERMANYFischer, A论文数: 0 引用数: 0 h-index: 0机构: UNIV DUSSELDORF,DEPT PEDIAT,KINDERKLIN,D-40225 DUSSELDORF,GERMANYBasile, GD论文数: 0 引用数: 0 h-index: 0机构: UNIV DUSSELDORF,DEPT PEDIAT,KINDERKLIN,D-40225 DUSSELDORF,GERMANY
- [7] Omenn syndrome: Inflammation in leaky severe combined immunodeficiency[J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2008, 122 (06) : 1082 - 1086Villa, Anna论文数: 0 引用数: 0 h-index: 0机构: San Raffaele Telethon Ins Gene Therapy, CNR, Ist Tecnol Biomed, Milan, Italy Univ Toronto, Toronto, ON M5S 1A1, CanadaNotarangelo, Luigi D.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Childrens Hosp Boston, Sch Med, Div Immunol, Cambridge, MA 02138 USA Univ Toronto, Toronto, ON M5S 1A1, CanadaRoifman, Chaim M.论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Toronto, ON M5S 1A1, Canada Hosp Sick Children, Div Immunol & Allergy, Toronto, ON M5G 1X8, Canada Univ Toronto, Toronto, ON M5S 1A1, Canada
- [8] Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency[J]. BLOOD, 2005, 106 (06) : 2099 - 2101Wada, T论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa 9208641, JapanToma, T论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa 9208641, JapanOkamoto, H论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa 9208641, JapanKasahara, Y论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa 9208641, JapanKoizumi, S论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa 9208641, JapanAgematsu, K论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa 9208641, JapanKimura, H论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa 9208641, JapanShimada, A论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa 9208641, Japan论文数: 引用数: h-index:机构:Kato, M论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa 9208641, JapanYachie, A论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa 9208641, Japan
- [9] Somatic mosaicism in primary immune deficiencies[J]. CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY, 2008, 8 (06) : 510 - 514Wada, Taizo论文数: 0 引用数: 0 h-index: 0机构: Kanazawa Univ, Grad Sch Med Sci, Dept Pediat, Kanazawa, Ishikawa 9201192, Japan NHGRI, Disorders Immun Sect, Genet & Mol Biol Branch, NIH, Bethesda, MD 20892 USACandotti, Fabio论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Disorders Immun Sect, Genet & Mol Biol Branch, NIH, Bethesda, MD 20892 USA NHGRI, Disorders Immun Sect, Genet & Mol Biol Branch, NIH, Bethesda, MD 20892 USA