共 9 条
[1]
Phosphoinositide 3-Kinase δ Gene Mutation Predisposes to Respiratory Infection and Airway Damage
[J].
Angulo, Ivan
;
Vadas, Oscar
;
Garcon, Fabien
;
Banham-Hall, Edward
;
Plagnol, Vincent
;
Leahy, Timothy R.
;
Baxendale, Helen
;
Coulter, Tanya
;
Curtis, James
;
Wu, Changxin
;
Blake-Palmer, Katherine
;
Perisic, Olga
;
Smyth, Deborah
;
Maes, Mailis
;
Fiddler, Christine
;
Juss, Jatinder
;
Cilliers, Deirdre
;
Markelj, Gasper
;
Chandra, Anita
;
Farmer, George
;
Kielkowska, Anna
;
Clark, Jonathan
;
Kracker, Sven
;
Debre, Marianne
;
Picard, Capucine
;
Pellier, Isabelle
;
Jabado, Nada
;
Morris, James A.
;
Barcenas-Morales, Gabriela
;
Fischer, Alain
;
Stephens, Len
;
Hawkins, Phillip
;
Barrett, Jeffrey C.
;
Abinun, Mario
;
Clatworthy, Menna
;
Durandy, Anne
;
Doffinger, Rainer
;
Chilvers, Edwin R.
;
Cant, Andrew J.
;
Kumararatne, Dinakantha
;
Okkenhaug, Klaus
;
Williams, Roger L.
;
Condliffe, Alison
;
Nejentsev, Sergey
.
SCIENCE,
2013, 342 (6160)
:866-871

Angulo, Ivan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Vadas, Oscar
论文数: 0 引用数: 0
h-index: 0
机构:
MRC, Mol Biol Lab, Cambridge CB2 2QH, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Garcon, Fabien
论文数: 0 引用数: 0
h-index: 0
机构:
Babraham Inst, Cambridge, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

论文数: 引用数:
h-index:
机构:

Plagnol, Vincent
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Univ Coll London Genet Inst, London, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Leahy, Timothy R.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
Our Ladys Childrens Hosp, Dublin, Ireland Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Baxendale, Helen
论文数: 0 引用数: 0
h-index: 0
机构:
Addenbrookes Hosp, Dept Clin Biochem & Immunol, Cambridge, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Coulter, Tanya
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Childrens Hosp, Dublin, Ireland
Trinity Coll Dublin, Sch Med, Dept Immunol, Dublin, Ireland Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Curtis, James
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Wu, Changxin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Blake-Palmer, Katherine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Perisic, Olga
论文数: 0 引用数: 0
h-index: 0
机构:
MRC, Mol Biol Lab, Cambridge CB2 2QH, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Smyth, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Juvenile Diabet Res Fdn, Wellcome Trust Diabet & Inflammat Lab, Dept Med Genet,Cambridge Inst Med Res, Cambridge, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Maes, Mailis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Fiddler, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Juss, Jatinder
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Cilliers, Deirdre
论文数: 0 引用数: 0
h-index: 0
机构:
Oxford Univ Hosp, Dept Clin Genet, Oxford, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Markelj, Gasper
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr, Univ Childrens Hosp, Dept Allergol Rheumatol & Clin Immunol, Ljubljana, Slovenia Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Chandra, Anita
论文数: 0 引用数: 0
h-index: 0
机构:
Addenbrookes Hosp, Dept Clin Biochem & Immunol, Cambridge, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Farmer, George
论文数: 0 引用数: 0
h-index: 0
机构:
Raigmore Hosp, Inverness, Scotland Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Kielkowska, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Babraham Biosci Technol Ltd, Cambridge, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Clark, Jonathan
论文数: 0 引用数: 0
h-index: 0
机构:
Babraham Biosci Technol Ltd, Cambridge, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

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机构:

Debre, Marianne
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Childrens Hosp, AP HP, Dept Immunol & Hematol, Paris, France Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Picard, Capucine
论文数: 0 引用数: 0
h-index: 0
机构:
Descartes Sorbonne Paris Cite Univ Paris, Imagine Inst, Paris, France
Necker Childrens Hosp, AP HP, Dept Immunol & Hematol, Paris, France
Necker Childrens Hosp, AP HP, Ctr Primary Immunodeficiencies CEDI, Paris, France Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Pellier, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Angers, Dept Pediat, Angers, France Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Jabado, Nada
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Dept Pediat, Montreal, PQ H3A 2T5, Canada
McGill Univ Hlth Ctr, Montreal, PQ, Canada Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Morris, James A.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Barcenas-Morales, Gabriela
论文数: 0 引用数: 0
h-index: 0
机构:
Lab Inmunol, Fes Cuautitlan, Mexico Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Fischer, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Childrens Hosp, INSERM, U768, Natl Inst Hlth & Med Res, Paris, France
Descartes Sorbonne Paris Cite Univ Paris, Imagine Inst, Paris, France
Necker Childrens Hosp, AP HP, Dept Immunol & Hematol, Paris, France Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

论文数: 引用数:
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Barrett, Jeffrey C.
论文数: 0 引用数: 0
h-index: 0
机构:
Wellcome Trust Sanger Inst, Hinxton, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Abinun, Mario
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Clatworthy, Menna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

论文数: 引用数:
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机构:

Doffinger, Rainer
论文数: 0 引用数: 0
h-index: 0
机构:
Addenbrookes Hosp, Dept Clin Biochem & Immunol, Cambridge, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Chilvers, Edwin R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Cant, Andrew J.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Kumararatne, Dinakantha
论文数: 0 引用数: 0
h-index: 0
机构:
Addenbrookes Hosp, Dept Clin Biochem & Immunol, Cambridge, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

论文数: 引用数:
h-index:
机构:

Williams, Roger L.
论文数: 0 引用数: 0
h-index: 0
机构:
MRC, Mol Biol Lab, Cambridge CB2 2QH, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Condliffe, Alison
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England

Nejentsev, Sergey
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England
[2]
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K
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Conley, Mary Ellen
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Dobbs, A. Kerry
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Quintana, Anita M.
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Bosompem, Amma
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Wang, Yong-Dong
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Coustan-Smith, Elaine
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Smith, Amber M.
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Perez, Elena E.
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Murray, Peter J.
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JOURNAL OF EXPERIMENTAL MEDICINE,
2012, 209 (03)
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Conley, Mary Ellen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38163 USA
St Jude Childrens Hosp, Dept Immunol, Memphis, TN 38105 USA Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38163 USA

Dobbs, A. Kerry
论文数: 0 引用数: 0
h-index: 0
机构:
St Jude Childrens Hosp, Dept Immunol, Memphis, TN 38105 USA Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38163 USA

Quintana, Anita M.
论文数: 0 引用数: 0
h-index: 0
机构:
St Jude Childrens Hosp, Dept Immunol, Memphis, TN 38105 USA Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38163 USA

Bosompem, Amma
论文数: 0 引用数: 0
h-index: 0
机构:
St Jude Childrens Hosp, Dept Immunol, Memphis, TN 38105 USA Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38163 USA

Wang, Yong-Dong
论文数: 0 引用数: 0
h-index: 0
机构:
St Jude Childrens Hosp, Dept Bioinformat & Biotechnol, Memphis, TN 38105 USA Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38163 USA

Coustan-Smith, Elaine
论文数: 0 引用数: 0
h-index: 0
机构:
St Jude Childrens Hosp, Dept Oncol, Memphis, TN 38105 USA Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38163 USA

Smith, Amber M.
论文数: 0 引用数: 0
h-index: 0
机构:
St Jude Childrens Hosp, Dept Immunol, Memphis, TN 38105 USA
St Jude Childrens Hosp, Dept Infect Dis, Memphis, TN 38105 USA Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38163 USA

Perez, Elena E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ S Florida, Dept Pediat, St Petersburg, FL 33701 USA Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38163 USA

Murray, Peter J.
论文数: 0 引用数: 0
h-index: 0
机构:
St Jude Childrens Hosp, Dept Immunol, Memphis, TN 38105 USA
St Jude Childrens Hosp, Dept Infect Dis, Memphis, TN 38105 USA Univ Tennessee, Coll Med, Dept Pediat, Memphis, TN 38163 USA
[3]
Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility
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Crank, M. C.
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Grossman, J. K.
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Moir, S.
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Pittaluga, S.
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Buckner, C. M.
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Kardava, L.
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Agharahimi, A.
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Meuwissen, H.
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Stoddard, J.
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Niemela, J.
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Kuehn, H.
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Rosenzweig, S. D.
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JOURNAL OF CLINICAL IMMUNOLOGY,
2014, 34 (03)
:272-276

Crank, M. C.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA

Grossman, J. K.
论文数: 0 引用数: 0
h-index: 0
机构:
Alberta Hlth Serv, Div Hematol & Hematol Malignancies, Calgary, AB, Canada NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA

Moir, S.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Immunoregulat Lab, NIH, Bethesda, MD 20892 USA NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA

Pittaluga, S.
论文数: 0 引用数: 0
h-index: 0
机构:
NCI, Hematopathol Sect, Pathol Lab, NIH, Bethesda, MD 20892 USA NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA

Buckner, C. M.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Immunoregulat Lab, NIH, Bethesda, MD 20892 USA NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA

Kardava, L.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Immunoregulat Lab, NIH, Bethesda, MD 20892 USA NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA

Agharahimi, A.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Primary Immune Deficiency Clin, NIH, Bethesda, MD 20892 USA NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA

Meuwissen, H.
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA

Stoddard, J.
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA

Niemela, J.
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA

Kuehn, H.
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA

Rosenzweig, S. D.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Primary Immune Deficiency Clin, NIH, Bethesda, MD 20892 USA NIAID, Immunol Lab, NIH, Bethesda, MD 20892 USA
[4]
A human immunodeficiency caused by mutations in the PIK3R1 gene
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Deau, Marie-Celine
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Heurtier, Lucie
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Frange, Pierre
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Suarez, Felipe
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Bole-Feysot, Christine
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Nitschke, Patrick
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Cavazzana, Marina
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Picard, Capucine
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Durandy, Anne
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Fischer, Alain
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Kracker, Sven
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JOURNAL OF CLINICAL INVESTIGATION,
2014, 124 (09)
:3923-3928

Deau, Marie-Celine
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR 1163, Human Lymphohematopoiesis Lab, Paris, France
Univ Paris 05, Sorbonne Paris Cite, Imagine Inst, Paris, France INSERM, UMR 1163, Human Lymphohematopoiesis Lab, Paris, France

论文数: 引用数:
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Frange, Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Unite Immunol & Hematol Pediat, Paris, France INSERM, UMR 1163, Human Lymphohematopoiesis Lab, Paris, France

Suarez, Felipe
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Imagine Inst, Paris, France
Hop Necker Enfants Malad, AP HP, Serv Hematol Adultes, Paris, France INSERM, UMR 1163, Human Lymphohematopoiesis Lab, Paris, France

Bole-Feysot, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Imagine Inst, Paris, France INSERM, UMR 1163, Human Lymphohematopoiesis Lab, Paris, France

Nitschke, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Imagine Inst, Paris, France INSERM, UMR 1163, Human Lymphohematopoiesis Lab, Paris, France

论文数: 引用数:
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机构:

Picard, Capucine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Sorbonne Paris Cite, Imagine Inst, Paris, France
Hop Necker Enfants Malad, AP HP, Unite Immunol & Hematol Pediat, Paris, France
Hop Necker Enfants Malad, AP HP, Ctr Primary Immunodeficiencies, Paris, France INSERM, UMR 1163, Human Lymphohematopoiesis Lab, Paris, France

论文数: 引用数:
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Fischer, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, UMR 1163, Human Lymphohematopoiesis Lab, Paris, France
Univ Paris 05, Sorbonne Paris Cite, Imagine Inst, Paris, France
Hop Necker Enfants Malad, AP HP, Unite Immunol & Hematol Pediat, Paris, France
Coll France, F-75231 Paris, France INSERM, UMR 1163, Human Lymphohematopoiesis Lab, Paris, France

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[5]
Immunoglobulin class-switch recombination deficiencies
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Durandy, Anne
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Kracker, Sven
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ARTHRITIS RESEARCH & THERAPY,
2012, 14 (04)

Durandy, Anne
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h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U768, F-75015 Paris, France Hop Necker Enfants Malad, INSERM, U768, F-75015 Paris, France

Kracker, Sven
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U768, F-75015 Paris, France
[6]
Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome
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Kracker, Sven
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Curtis, James
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Ibrahim, Mohammad A. A.
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Sediva, Anna
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Salisbury, Jon
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Campr, Vit
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Debre, Marianne
;
Edgar, J. David M.
;
Imai, Kohsuke
;
Picard, Capucine
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Casanova, Jean-Laurent
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Fischer, Alain
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Nejentsev, Sergey
;
Durandy, Anne
.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY,
2014, 134 (01)
:233-236

论文数: 引用数:
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机构:

Curtis, James
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France

Ibrahim, Mohammad A. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Kings Hlth Partners, Kings Coll Hosp NHS Fdn Trust, Div Allergy Asthma & Lung Biol,Dept Immunol Med,S, London WC2R 2LS, England Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France

Sediva, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Motol, Inst Immunol, Prague, Czech Republic Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France

Salisbury, Jon
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Kings Hlth Partners, Kings Coll Hosp NHS Fdn Trust, Dept Histopathol,Sch Med, London WC2R 2LS, England Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France

Campr, Vit
论文数: 0 引用数: 0
h-index: 0
机构:
Charles Univ Prague, Fac Med 2, Dept Pathol, Prague, Czech Republic
Motol Univ Hosp, Prague, Czech Republic Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France

Debre, Marianne
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Childrens Hosp, AP HP, Dept Immunol & Hematol, Paris, France Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France

Edgar, J. David M.
论文数: 0 引用数: 0
h-index: 0
机构:
Queens Univ Belfast, Royal Hosp, Reg Immunol Serv, Belfast, Antrim, North Ireland Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France

Imai, Kohsuke
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Def Med Coll, Dept Pediat, Saitama, Japan Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France

Picard, Capucine
论文数: 0 引用数: 0
h-index: 0
机构:
Descartes Sorbonne Paris Cite Univ Paris, Imagine Inst, Paris, France
Necker Childrens Hosp, AP HP, Dept Immunol & Hematol, Paris, France
Necker Childrens Hosp, AP HP, Ctr Primary Immunodeficiencies CEDI, Paris, France
Necker Med Sch, Necker Branch, Lab Human Genet Infect Dis, Paris, France Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France

Casanova, Jean-Laurent
论文数: 0 引用数: 0
h-index: 0
机构:
Descartes Sorbonne Paris Cite Univ Paris, Imagine Inst, Paris, France
Necker Med Sch, Necker Branch, Lab Human Genet Infect Dis, Paris, France
Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 10021 USA Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France

Fischer, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France
Descartes Sorbonne Paris Cite Univ Paris, Imagine Inst, Paris, France
Necker Childrens Hosp, AP HP, Dept Immunol & Hematol, Paris, France Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France

Nejentsev, Sergey
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cambridge, Dept Med, Cambridge CB2 2QQ, England Necker Childrens Hosp, Natl Inst Hlth & Med Res, Paris, France

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[7]
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
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Lucas, Carrie L.
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Zhang, Yu
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Venida, Anthony
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Wang, Ying
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Hughes, Jason
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McElwee, Joshua
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Butrick, Morgan
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Matthews, Helen
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Price, Susan
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Biancalana, Matthew
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Wang, Xiaochuan
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Richards, Michael
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Pozos, Tamara
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Barlan, Isil
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Ozen, Ahmet
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Rao, V. Koneti
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Su, Helen C.
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Lenardo, Michael J.
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JOURNAL OF EXPERIMENTAL MEDICINE,
2014, 211 (13)
:2537-2547

Lucas, Carrie L.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA
NIAID, NIAID Clin Genom Program, NIH, Bethesda, MD 20892 USA NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Zhang, Yu
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, NIAID Clin Genom Program, NIH, Bethesda, MD 20892 USA
NIAID, Human Immunol Dis Unit, Host Def Lab, NIH, Bethesda, MD 20892 USA NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Venida, Anthony
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA
NIAID, NIAID Clin Genom Program, NIH, Bethesda, MD 20892 USA NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Wang, Ying
论文数: 0 引用数: 0
h-index: 0
机构:
Fudan Univ, Dept Clin Immunol, Childrens Hosp, Shanghai 200433, Peoples R China NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Hughes, Jason
论文数: 0 引用数: 0
h-index: 0
机构:
Merck & Co Inc, Merck Res Labs, Boston, MA 02115 USA NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

McElwee, Joshua
论文数: 0 引用数: 0
h-index: 0
机构:
Merck & Co Inc, Merck Res Labs, Boston, MA 02115 USA NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Butrick, Morgan
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, NIAID Clin Genom Program, NIH, Bethesda, MD 20892 USA
NIAID, Intramural Clin Management & Operat Branch, NIH, Bethesda, MD 20892 USA NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Matthews, Helen
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA
NIAID, NIAID Clin Genom Program, NIH, Bethesda, MD 20892 USA NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Price, Susan
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA
NIAID, NIAID Clin Genom Program, NIH, Bethesda, MD 20892 USA NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Biancalana, Matthew
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA
NIAID, NIAID Clin Genom Program, NIH, Bethesda, MD 20892 USA NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Wang, Xiaochuan
论文数: 0 引用数: 0
h-index: 0
机构:
Fudan Univ, Dept Clin Immunol, Childrens Hosp, Shanghai 200433, Peoples R China NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Richards, Michael
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Pozos, Tamara
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Barlan, Isil
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Ozen, Ahmet
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Rao, V. Koneti
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA
NIAID, NIAID Clin Genom Program, NIH, Bethesda, MD 20892 USA NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Su, Helen C.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, NIAID Clin Genom Program, NIH, Bethesda, MD 20892 USA
NIAID, Human Immunol Dis Unit, Host Def Lab, NIH, Bethesda, MD 20892 USA NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA

Lenardo, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA
NIAID, NIAID Clin Genom Program, NIH, Bethesda, MD 20892 USA NIAID, Mol Dev Immune Syst Sect, Immunol Lab, NIH, Bethesda, MD 20892 USA
[8]
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency
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Lucas, Carrie L.
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Kuehn, Hye Sun
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Zhao, Fang
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Niemel, Julie E.
;
Deenick, Elissa K.
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Palendira, Umaimainthan
;
Avery, Danielle T.
;
Moens, Leen
;
Cannons, Jennifer L.
;
Lanai, Matthew Bianca
;
Stoddard, Jennifer
;
Ouyane, Weiming
;
Frucht, David M.
;
Rao, V. Koneti
;
Atkinson, T. Prescott
;
Agharahimi, Anahita
;
Hussey, Ashleigh A.
;
Folioll, Les R.
;
Olivier, Kenneth N.
;
Fleisher, Thomas A.
;
Pittaluga, Stefania
;
Holland, Steven M.
;
Cohen, Jeffrey I.
;
Oliveira, Joao B.
;
Tangye, Stuart G.
;
Schwartzberg, Pamela L.
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Lenardol, Michael J.
;
Uzel, Gulbu
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NATURE IMMUNOLOGY,
2014, 15 (01)
:88-97

Lucas, Carrie L.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Kuehn, Hye Sun
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Ctr Clin, Dept Lab Med, Bethesda, MD USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Zhao, Fang
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Genet Dis Res Branch, Cell Signaling Sect, Bethesda, MD 20892 USA
Univ Chicago, Pritzker Sch Med, Chicago, IL 60637 USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Niemel, Julie E.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Ctr Clin, Dept Lab Med, Bethesda, MD USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Deenick, Elissa K.
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Immunol & Immunodeficiency Grp, Program Immunol, Sydney, NSW, Australia
Univ New S Wales, Fac Med, St Vincents Clin Sch, Sydney, NSW, Australia NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Palendira, Umaimainthan
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Immunol & Immunodeficiency Grp, Program Immunol, Sydney, NSW, Australia
Univ New S Wales, Fac Med, St Vincents Clin Sch, Sydney, NSW, Australia NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Avery, Danielle T.
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Immunol & Immunodeficiency Grp, Program Immunol, Sydney, NSW, Australia NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Moens, Leen
论文数: 0 引用数: 0
h-index: 0
机构:
Garvan Inst Med Res, Immunol & Immunodeficiency Grp, Program Immunol, Sydney, NSW, Australia NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Cannons, Jennifer L.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Genet Dis Res Branch, Cell Signaling Sect, Bethesda, MD 20892 USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Lanai, Matthew Bianca
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Stoddard, Jennifer
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Ctr Clin, Dept Lab Med, Bethesda, MD USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Ouyane, Weiming
论文数: 0 引用数: 0
h-index: 0
机构:
United States Food & Drug Adm, Ctr Drug Evaluat & Res, Off Biotechnol Prod, Div Monoclonal Antibodies,Lab Cell Biol, Bethesda, MD USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Frucht, David M.
论文数: 0 引用数: 0
h-index: 0
机构:
United States Food & Drug Adm, Ctr Drug Evaluat & Res, Off Biotechnol Prod, Div Monoclonal Antibodies,Lab Cell Biol, Bethesda, MD USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Rao, V. Koneti
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Atkinson, T. Prescott
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alabama Birmingham, Dept Pediat, Div Allergy & Immunol, Birmingham, AL USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Agharahimi, Anahita
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Ctr Clin, Bethesda, MD USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Hussey, Ashleigh A.
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Folioll, Les R.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Canc Inst, NIH, Pathol Lab, Bethesda, MD USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Olivier, Kenneth N.
论文数: 0 引用数: 0
h-index: 0
机构:
Frederick Natl Lab Clin Res, Sci Applicatidns Int Corp Frederick, Clin Monitoring Res Program, Clin Res Directorate,Lab Clin Infect Dis, Frederick, MD USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Fleisher, Thomas A.
论文数: 0 引用数: 0
h-index: 0
机构:
NIH, Ctr Clin, Dept Lab Med, Bethesda, MD USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Pittaluga, Stefania
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Allergy & Infect Dis, Natl Inst Hlth, Lab Infect Dis, Bethesda, MD USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Holland, Steven M.
论文数: 0 引用数: 0
h-index: 0
机构:
Frederick Natl Lab Clin Res, Sci Applicatidns Int Corp Frederick, Clin Monitoring Res Program, Clin Res Directorate,Lab Clin Infect Dis, Frederick, MD USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Cohen, Jeffrey I.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Med Integral Prof Fernando Figue, Recife Pernambuco, Brazil NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Oliveira, Joao B.
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Tangye, Stuart G.
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Schwartzberg, Pamela L.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Genet Dis Res Branch, Cell Signaling Sect, Bethesda, MD 20892 USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Lenardol, Michael J.
论文数: 0 引用数: 0
h-index: 0
机构:
NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA

Uzel, Gulbu
论文数: 0 引用数: 0
h-index: 0
机构: NIAID, Immunol Lab, NIH, Mol Dev Immune Syst Sect, Bethesda, MD 20892 USA
[9]
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)
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Revy, P
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Muto, T
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Levy, Y
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Geissmann, F
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Plebani, A
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Sanal, O
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Catalan, N
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Forveille, M
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Dufourcq-Lagelouse, R
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Gennery, A
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Tezcan, I
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Ersoy, F
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Kayserili, H
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Ugazio, AG
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Brousse, N
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Muramatsu, M
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Notarangelo, LD
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Kinoshita, K
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Honjo, T
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Fischer, A
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Durandy, A
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Revy, P
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Muto, T
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Levy, Y
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Geissmann, F
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Plebani, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Sanal, O
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Catalan, N
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Forveille, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Dufourcq-Lagelouse, R
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Gennery, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Tezcan, I
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Ersoy, F
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Kayserili, H
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Ugazio, AG
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Brousse, N
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Muramatsu, M
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Notarangelo, LD
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Kinoshita, K
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Honjo, T
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Fischer, A
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, INSERM, U429, Paris, France

Durandy, A
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, INSERM, U429, Paris, France Hop Necker Enfants Malad, INSERM, U429, Paris, France