共 7 条
[1]
Highly Variable Clinical Phenotypes of Hypomorphic RAG1 Mutations
[J].
Avila, Elizabeth Mannino
;
Uzel, Gulbu
;
Hsu, Amy
;
Milner, Joshua D.
;
Turner, Maria L.
;
Pittaluga, Stefania
;
Freeman, Alexandra F.
;
Holland, Steven M.
.
PEDIATRICS,
2010, 126 (05)
:E1248-E1252

论文数: 引用数:
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Uzel, Gulbu
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA

Hsu, Amy
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA

Milner, Joshua D.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Lab Allerg Dis, NIH, Bethesda, MD 20892 USA
NCI, Dermatol Branch, NIH, Bethesda, MD 20892 USA NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA

Turner, Maria L.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Lab Allerg Dis, NIH, Bethesda, MD 20892 USA
NCI, Dermatol Branch, NIH, Bethesda, MD 20892 USA NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA

Pittaluga, Stefania
论文数: 0 引用数: 0
h-index: 0
机构:
NCI, Pathol Lab, NIH, Bethesda, MD 20892 USA NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA

Freeman, Alexandra F.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA

Holland, Steven M.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA NIAID, Immunopathogenesis Sect, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA
[2]
Hypomorphic Rag mutations can cause destructive midline granulomatous disease
[J].
De Ravin, Suk See
;
Cowen, Edward W.
;
Zarember, Kol A.
;
Whiting-Theobald, Narda L.
;
Kuhns, Douglas B.
;
Sandler, Netanya G.
;
Douek, Daniel C.
;
Pittaluga, Stefania
;
Poliani, Pietro L.
;
Lee, Yu Nee
;
Notarangelo, Luigi D.
;
Wang, Lei
;
Alt, Frederick W.
;
Kang, Elizabeth M.
;
Milner, Joshua D.
;
Niemela, Julie E.
;
Fontana-Penn, Mary
;
Sinal, Sara H.
;
Malech, Harry L.
.
BLOOD,
2010, 116 (08)
:1263-1271

De Ravin, Suk See
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Cowen, Edward W.
论文数: 0 引用数: 0
h-index: 0
机构:
NCI, Dermatol Branch, NIH, Bethesda, MD 20892 USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Zarember, Kol A.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Whiting-Theobald, Narda L.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Kuhns, Douglas B.
论文数: 0 引用数: 0
h-index: 0
机构:
SAIC Frederick Inc, Clin Serv Program, Frederick, MD USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Sandler, Netanya G.
论文数: 0 引用数: 0
h-index: 0
机构:
NCI, Vaccine Res Ctr, NIH, Bethesda, MD 20892 USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Douek, Daniel C.
论文数: 0 引用数: 0
h-index: 0
机构:
NCI, Vaccine Res Ctr, NIH, Bethesda, MD 20892 USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Pittaluga, Stefania
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Poliani, Pietro L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Brescia, Dept Pathol, Brescia, Italy NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Lee, Yu Nee
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Div Immunol, Childrens Hosp Boston, Boston, MA USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Notarangelo, Luigi D.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Div Immunol, Childrens Hosp Boston, Boston, MA USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Wang, Lei
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Div Immunol, Childrens Hosp Boston, Boston, MA USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Alt, Frederick W.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Div Immunol, Childrens Hosp Boston, Boston, MA USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Kang, Elizabeth M.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Milner, Joshua D.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

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Fontana-Penn, Mary
论文数: 0 引用数: 0
h-index: 0
机构:
Wake Forest Univ, Dept Pediat, Sch Med, Winston Salem, NC 27109 USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Sinal, Sara H.
论文数: 0 引用数: 0
h-index: 0
机构:
Wake Forest Univ, Dept Pediat, Sch Med, Winston Salem, NC 27109 USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA

Malech, Harry L.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA NIAID, Lab Host Defenses, NIH, Bethesda, MD 20892 USA
[3]
Leaky severe combined immunodeficiency and aberrant DNA rearrangements due to a hypomorphic RAG1 mutation
[J].
Giblin, William
;
Chatterji, Monalisa
;
Westfield, Gerwin
;
Masud, Tehmina
;
Theisen, Brian
;
Cheng, Hwei-Ling
;
DeVido, Jeffrey
;
Alt, Frederick W.
;
Ferguson, David O.
;
Schatz, David G.
;
Sekiguchi, JoAnn
.
BLOOD,
2009, 113 (13)
:2965-2975

Giblin, William
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA

Chatterji, Monalisa
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Immunobiol, New Haven, CT USA Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA

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Cheng, Hwei-Ling
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Howard Hughes Med Inst, Boston, MA 02115 USA
Harvard Univ, Sch Med, Childrens Hosp, Immune Dis Inst,Dept Genet, Boston, MA 02115 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA

DeVido, Jeffrey
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Childrens Hosp, Immune Dis Inst,Dept Genet, Boston, MA 02115 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA

Alt, Frederick W.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Univ, Sch Med, Howard Hughes Med Inst, Boston, MA 02115 USA
Harvard Univ, Sch Med, Childrens Hosp, Immune Dis Inst,Dept Genet, Boston, MA 02115 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA

Ferguson, David O.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Dept Pathol, Ann Arbor, MI 48109 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA

Schatz, David G.
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Immunobiol, New Haven, CT USA
Harvard Univ, Sch Med, Howard Hughes Med Inst, Boston, MA 02115 USA Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA

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[4]
Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations
[J].
Kuijpers, Taco W.
;
IJspeert, Hanna
;
van Leeuwen, Ester M. M.
;
Jansen, Machiel H.
;
Hazenberg, Mette D.
;
Weijer, Kees C.
;
van Lier, Rene A. W.
;
van der Burg, Mirjam
.
BLOOD,
2011, 117 (22)
:5892-5896

Kuijpers, Taco W.
论文数: 0 引用数: 0
h-index: 0
机构:
Emma Childrens Hosp, AMC, NL-1105 AZ Amsterdam, Netherlands Emma Childrens Hosp, AMC, NL-1105 AZ Amsterdam, Netherlands

IJspeert, Hanna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Rotterdam, Erasmus MC, Dept Immunol, Rotterdam, Netherlands
Univ Med Ctr Rotterdam, Erasmus MC, Dept Pediat Infect Dis & Immunol, Rotterdam, Netherlands Emma Childrens Hosp, AMC, NL-1105 AZ Amsterdam, Netherlands

van Leeuwen, Ester M. M.
论文数: 0 引用数: 0
h-index: 0
机构:
AMC, Dept Expt Immunol, Amsterdam, Netherlands Emma Childrens Hosp, AMC, NL-1105 AZ Amsterdam, Netherlands

Jansen, Machiel H.
论文数: 0 引用数: 0
h-index: 0
机构:
AMC, Dept Expt Immunol, Amsterdam, Netherlands Emma Childrens Hosp, AMC, NL-1105 AZ Amsterdam, Netherlands

Hazenberg, Mette D.
论文数: 0 引用数: 0
h-index: 0
机构:
AMC, Sanquin & Landsteiner Lab, Amsterdam, Netherlands Emma Childrens Hosp, AMC, NL-1105 AZ Amsterdam, Netherlands

Weijer, Kees C.
论文数: 0 引用数: 0
h-index: 0
机构:
AMC, Dept Cell Biol & Histol, Amsterdam, Netherlands Emma Childrens Hosp, AMC, NL-1105 AZ Amsterdam, Netherlands

van Lier, Rene A. W.
论文数: 0 引用数: 0
h-index: 0
机构:
AMC, Dept Expt Immunol, Amsterdam, Netherlands Emma Childrens Hosp, AMC, NL-1105 AZ Amsterdam, Netherlands

van der Burg, Mirjam
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Rotterdam, Erasmus MC, Dept Immunol, Rotterdam, Netherlands Emma Childrens Hosp, AMC, NL-1105 AZ Amsterdam, Netherlands
[5]
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
[J].
Santagata, S
;
Gomez, CA
;
Sobacchi, C
;
Bozzi, F
;
Abinun, M
;
Pasic, S
;
Cortes, P
;
Vezzoni, P
;
Villa, A
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
2000, 97 (26)
:14572-14577

Santagata, S
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Dept Human Genome & Multifactorial Dis, I-20090 Segrate, MI, Italy

Gomez, CA
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Dept Human Genome & Multifactorial Dis, I-20090 Segrate, MI, Italy

Sobacchi, C
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Dept Human Genome & Multifactorial Dis, I-20090 Segrate, MI, Italy

Bozzi, F
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Dept Human Genome & Multifactorial Dis, I-20090 Segrate, MI, Italy

Abinun, M
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Dept Human Genome & Multifactorial Dis, I-20090 Segrate, MI, Italy

Pasic, S
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Dept Human Genome & Multifactorial Dis, I-20090 Segrate, MI, Italy

Cortes, P
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Dept Human Genome & Multifactorial Dis, I-20090 Segrate, MI, Italy

Vezzoni, P
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Dept Human Genome & Multifactorial Dis, I-20090 Segrate, MI, Italy

Villa, A
论文数: 0 引用数: 0
h-index: 0
机构: CNR, Ist Tecnol Biomed Avanzate, Dept Human Genome & Multifactorial Dis, I-20090 Segrate, MI, Italy
[6]
SHOVLIN CL, 1994, J IMMUNOL, V153, P2331
[7]
Omenn syndrome: Inflammation in leaky severe combined immunodeficiency
[J].
Villa, Anna
;
Notarangelo, Luigi D.
;
Roifman, Chaim M.
.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY,
2008, 122 (06)
:1082-1086

Villa, 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, Canada

Notarangelo, 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, Canada

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