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Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans
Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans
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Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans

Meyers, Greta ; Ng, Yen-Shing ; Bannock, Jason M ; Lavoie, Aubert ; Walter, Jolan E ; Notarangelo, Luigi D ; Kilic, Sara S ; Aksu, Guzide ; Debré, Marianne ; Rieux-Laucat, Frédéric ; Conley, Mary Ellen ; Cunningham-Rundles, Charlotte ; Durandy, Anne ; Meffre, Eric

Proceedings of the National Academy of Sciences - PNAS, 2011-07, Vol.108 (28), p.11554-11559 [Periódico revisado por pares]

United States: National Academy of Sciences

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2
Adenosine Deaminase (ADA)–Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry
Adenosine Deaminase (ADA)–Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry
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Adenosine Deaminase (ADA)–Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry

Kuo, Caroline Y. ; Garabedian, Elizabeth ; Puck, Jennifer ; Cowan, Morton J. ; Sullivan, Kathleen E. ; Buckley, Rebecca H. ; Cunningham-Rundles, Charlotte ; Marsh, Rebecca ; Candotti, Fabio ; Kohn, Donald B.

Journal of clinical immunology, 2020-11, Vol.40 (8), p.1124-1131 [Periódico revisado por pares]

New York: Springer US

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3
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
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Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

Maffucci, Patrick ; Chavez, Jose ; Jurkiw, Thomas J ; O'Brien, Patrick J ; Abbott, Jordan K ; Reynolds, Paul R ; Worth, Austen ; Notarangelo, Luigi D ; Felgentreff, Kerstin ; Cortes, Patricia ; Boisson, Bertrand ; Radigan, Lin ; Cobat, Aurélie ; Dinakar, Chitra ; Ehlayel, Mohammad ; Ben-Omran, Tawfeg ; Gelfand, Erwin W ; Casanova, Jean-Laurent ; Cunningham-Rundles, Charlotte

The Journal of clinical investigation, 2018-12, Vol.128 (12), p.5489-5504 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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4
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis
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Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

Maffucci, Patrick ; Bigio, Benedetta ; Rapaport, Franck ; Cobat, Aurélie ; Borghesi, Alessandro ; Lopez, Marie ; Patin, Etienne ; Bolze, Alexandre ; Shang, Lei ; Bendavid, Matthieu ; Scott, Eric M. ; Stenson, Peter D. ; Cunningham-Rundles, Charlotte ; Cooper, David N. ; Gleeson, Joseph G. ; Fellay, Jacques ; Quintana-Murci, Lluis ; Casanova, Jean-Laurent ; Abel, Laurent ; Boisson, Bertrand ; Itan, Yuval

Proceedings of the National Academy of Sciences - PNAS, 2019-01, Vol.116 (3), p.950-959 [Periódico revisado por pares]

United States: National Academy of Sciences

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5
Brief report: enhanced humoral immunity in common variable immunodeficiency after long-term treatment with polyethylene glycol-conjugated interleukin-2
Brief report: enhanced humoral immunity in common variable immunodeficiency after long-term treatment with polyethylene glycol-conjugated interleukin-2
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Brief report: enhanced humoral immunity in common variable immunodeficiency after long-term treatment with polyethylene glycol-conjugated interleukin-2

Cunningham-Rundles, C ; Kazbay, K ; Hassett, J ; Zhou, Z ; Mayer, L

The New England journal of medicine, 1994-10, Vol.331 (14), p.918-921 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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6
Case Series: Convalescent Plasma Therapy for Patients with COVID-19 and Primary Antibody Deficiency
Case Series: Convalescent Plasma Therapy for Patients with COVID-19 and Primary Antibody Deficiency
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Case Series: Convalescent Plasma Therapy for Patients with COVID-19 and Primary Antibody Deficiency

Lang-Meli, Julia ; Fuchs, Jonas ; Mathé, Philipp ; Ho, Hsi-en ; Kern, Lisa ; Jaki, Lena ; Rusignuolo, Giuseppe ; Mertins, Susanne ; Somogyi, Vivien ; Neumann-Haefelin, Christoph ; Trinkmann, Frederik ; Müller, Michael ; Thimme, Robert ; Umhau, Markus ; Quinti, Isabella ; Wagner, Dirk ; Panning, Marcus ; Cunningham-Rundles, Charlotte ; Laubner, Katharina ; Warnatz, Klaus

Journal of clinical immunology, 2022-02, Vol.42 (2), p.253-265 [Periódico revisado por pares]

New York: Springer US

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7
Chronic Granulomatous Disease With Inflammatory Bowel Disease: Clinical Presentation, Treatment, and Outcomes From the USIDNET Registry
Chronic Granulomatous Disease With Inflammatory Bowel Disease: Clinical Presentation, Treatment, and Outcomes From the USIDNET Registry
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Chronic Granulomatous Disease With Inflammatory Bowel Disease: Clinical Presentation, Treatment, and Outcomes From the USIDNET Registry

LaBere, Brenna ; Gutierrez, Maria J. ; Wright, Hannah ; Garabedian, Elizabeth ; Ochs, Hans D. ; Fuleihan, Ramsay L. ; Secord, Elizabeth ; Marsh, Rebecca ; Sullivan, Kathleen E. ; Cunningham-Rundles, Charlotte ; Notarangelo, Luigi D. ; Chen, Karin

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2022-05, Vol.10 (5), p.1325-1333.e5 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Chronic urticaria and angioedema as the first presentations of common variable immunodeficiency
Chronic urticaria and angioedema as the first presentations of common variable immunodeficiency
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Chronic urticaria and angioedema as the first presentations of common variable immunodeficiency

Altschul, Aimee ; Cunningham-Rundles, Charlotte

Journal of allergy and clinical immunology, 2002-10, Vol.110 (4), p.664-665 [Periódico revisado por pares]

United States: Mosby, Inc

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9
Clinical Manifestations and Outcomes of Activated Phosphoinositide 3-Kinase δ Syndrome from the USIDNET Cohort
Clinical Manifestations and Outcomes of Activated Phosphoinositide 3-Kinase δ Syndrome from the USIDNET Cohort
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Clinical Manifestations and Outcomes of Activated Phosphoinositide 3-Kinase δ Syndrome from the USIDNET Cohort

Oh, Jessica ; Garabedian, Elizabeth ; Fuleihan, Ramsay ; Cunningham-Rundles, Charlotte

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2021-11, Vol.9 (11), p.4095-4102 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Common variable immunodeficiency
Common variable immunodeficiency
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Common variable immunodeficiency

Cunningham-Rundles, Charlotte, MD, PhD ; Maglione, Paul J., MD, PhD

Journal of allergy and clinical immunology, 2012-05, Vol.129 (5), p.1425-1426.e3 [Periódico revisado por pares]

United States: Mosby, Inc

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