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ArticlesPeer ReviewedFull Text
Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies
Author / Creator:Felgentreff, Kerstin ; Baumann, Ulrich ; Klemann, Christian ; Schuetz, Catharina ; Viemann, Dorothee ; Wetzke, Martin ; Pannicke, Ulrich ; von Hardenberg, Sandra ; Auber, Bernd ; Debatin, Klaus-Michael ; Jacobsen, Eva-Maria ; Hoenig, Manfred ; Schulz, Ansgar ; Schwarz, Klaus
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2022-02, Vol.42 (2), p.286-298
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ArticlesPeer ReviewedFull Text
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies
Author / Creator: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
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2018-12, Vol.128 (12), p.5489-5504
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ArticlesPeer ReviewedFull Text
Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals
Author / Creator:Felgentreff, Kerstin ; Baxi, Sachin N. ; Lee, Yu Nee ; Dobbs, Kerry ; Henderson, Lauren A. ; Csomos, Krisztian ; Tsitsikov, Erdyni N. ; Armanios, Mary ; Walter, Jolan E. ; Notarangelo, Luigi D.
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2016-05, Vol.36 (4), p.341-353
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ArticlesPeer ReviewedFull Text
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells
Author / Creator:Felgentreff, Kerstin ; Du, Likun ; Weinacht, Katja G. ; Dobbs, Kerry ; Bartish, Margarita ; Giliani, Silvia ; Schlaeger, Thorsten ; DeVine, Alexander ; Schambach, Axel ; Woodbine, Lisa J. ; Davies, Graham ; Baxi, Sachin N. ; van der Burg, Mirjam ; Bleesing, Jack ; Gennery, Andrew ; Manis, John ; Pan-Hammarström, Qiang ; Notarangelo, Luigi D.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2014-06, Vol.111 (24), p.8889-8894
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ArticlesPeer ReviewedFull Text
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections
Author / Creator:Dobbs, Kerry ; Domínguez Conde, Cecilia ; Zhang, Shen-Ying ; Parolini, Silvia ; Audry, Magali ; Chou, Janet ; Haapaniemi, Emma ; Keles, Sevgi ; Bilic, Ivan ; Okada, Satoshi ; Massaad, Michel J ; Rounioja, Samuli ; Alwahadneh, Adel M ; Serwas, Nina K ; Capuder, Kelly ; Çiftçi, Ergin ; Felgentreff, Kerstin ; Ohsumi, Toshiro K ; Pedergnana, Vincent ; Boisson, Bertrand ; Haskoloğlu, Şule ; Ensari, Arzu ; Schuster, Michael ; Moretta, Alessandro ; Itan, Yuval ; Patrizi, Ornella ; Rozenberg, Flore ; Lebon, Pierre ; Saarela, Janna ; Knip, Mikael ; Petrovski, Slavé ; Goldstein, David B ; Parrott, Roberta E ; Savas, Berna ; Schambach, Axel ; Tabellini, Giovanna ; Bock, Christoph ; Chatila, Talal A ; Comeau, Anne Marie ; Geha, Raif S ; Abel, Laurent ; Buckley, Rebecca H ; İkincioğulları, Aydan ; Al-Herz, Waleed ; Helminen, Merja ; Doğu, Figen ; Casanova, Jean-Laurent ; Boztuğ, Kaan ; Notarangelo, Luigi D
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2015-06, Vol.372 (25), p.2409-2422
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ArticlesPeer ReviewedFull Text
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti
Author / Creator:Eigemann, Jessica ; Janda, Ales ; Schuetz, Catharina ; Lee-Kirsch, Min Ae ; Schulz, Ansgar ; Hoenig, Manfred ; Furlan, Ingrid ; Jacobsen, Eva-Maria ; Zinngrebe, Julia ; Peters, Sarah ; Drewes, Cosima ; Siebert, Reiner ; Rump, Eva-Maria ; Führer, Marita ; Lorenz, Myriam ; Pannicke, Ulrich ; Kölsch, Uwe ; Debatin, Klaus-Michael ; von Bernuth, Horst ; Schwarz, Klaus ; Felgentreff, Kerstin
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2025-12, Vol.45 (1), p.1-1, Article 1
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ArticlesPeer ReviewedFull Text
PLA2R-positive (primary) membranous nephropathy in a child with IPEX syndrome
Author / Creator:Chuva, Teresa ; Pfister, Frederick ; Beringer, Ortraud ; Felgentreff, Kerstin ; Büttner-Herold, Maike ; Amann, Kerstin
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2017-09, Vol.32 (9), p.1621-1624
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ArticlesPeer ReviewedFull Text
PLA2R-positive
Author / Creator:Chuva, Teresa ; Pfister, Frederick ; Büttner-Herold, Maike ; Amann, Kerstin ; Beringer, Ortraud ; Felgentreff, Kerstin
Publisher:Springer
Journal title:Pediatric nephrology (Berlin, West), 2017-09, Vol.32 (9), p.1621
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ArticlesPeer ReviewedFull Text
DOCK2 and a Recessive Immunodeficiency with Early-Onset Invasive Infections
Author / Creator:Dobbs, Kerry ; Domínguez Conde, Cecilia ; Zhang, Shen-Ying ; Parolini, Silvia ; Audry, Magali ; Chou, Janet ; Haapaniemi, Emma ; Keles, Sevgi ; Bilic, Ivan ; Okada, Satoshi ; Massaad, Michel J. ; Rounioja, Samuli ; Alwahadneh, Adel M. ; Serwas, Nina K. ; Capuder, Kelly ; Ciftci, Ergin ; Felgentreff, Kerstin ; Ohsumi, Toshiro K. ; Pedergnana, Vincent ; Boisson, Bertrand ; Haskoloğlu, Sule ; Ensari, Arzu ; Schuster, Michael ; Moretta, Alessandro ; Itan, Yuval ; Patrizi, Ornella ; Rozenberg, Flore ; Lebon, Pierre ; Saarela, Janna ; Knip, Mikael ; Petrovski, Slavé ; Goldstein, David B. ; Parrott, Roberta E. ; Savas, Berna ; Schambach, Axel ; Tabellini, Giovanna ; Bock, Christoph ; Chatila, Talal ; Comeau, Anne Marie ; Geha, Raif S. ; Abel, Laurent ; Buckley, Rebecca H. ; Ikincioğullari, Aydan ; Al-Herz, Waleed ; Helminen, Merja ; Doğu, Figen ; Casanova, Jean-Laurent ; Boztuğ, Kaan ; Notarangelo, Luigi D.
Journal title:The New England journal of medicine, 2015-06, Vol.372 (25), p.2409-2422
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ArticlesPeer ReviewedFull Text
DOCK2 and a Recessive Immunodeficiency with Early-OnsetInvasive Infections
Author / Creator:Dobbs, Kerry ; Domínguez Conde, Cecilia ; Zhang, Shen-Ying ; Parolini, Silvia ; Audry, Magali ; Chou, Janet ; Haapaniemi, Emma ; Keles, Sevgi ; Bilic, Ivan ; Okada, Satoshi ; Massaad, Michel ; Rounioja, Samuli ; Alwahadneh, Adel ; Serwas, Nina ; Capuder, Kelly ; Çiftçi, Ergin ; Felgentreff, Kerstin ; Ohsumi, Toshiro ; Pedergnana, Vincent ; Boisson, Bertrand ; Haskoloğlu, Şule ; Ensari, Arzu ; Schuster, Michael ; Moretta, Alessandro ; Itan, Yuval ; Patrizi, Ornella ; Rozenberg, Flore ; Lebon, Pierre ; Saarela, Janna ; Knip, Mikael ; Petrovski, Slavé ; Goldstein, David ; Parrott, Roberta ; Savas, Berna ; Schambach, Axel ; Tabellini, Giovanna ; Bock, Christoph ; Chatila, Talal ; Comeau, Anne Marie ; Geha, Raif ; Abel, Laurent ; Buckley, Rebecca ; İkincioğullari, Aydan ; Al-Herz, Waleed ; Helminen, Merja ; Doğu, Figen ; Casanova, Jean-Laurent ; Boztuğ, Kaan ; Notarangelo, Luigi
Publisher:Massachusetts Medical Society
Journal title:The New England journal of medicine, 2015-06, Vol.372 (25), p.2409-2422
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Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies

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

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Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals

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Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

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Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

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Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti

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PLA2R-positive (primary) membranous nephropathy in a child with IPEX syndrome

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PLA2R-positive

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DOCK2 and a Recessive Immunodeficiency with Early-Onset Invasive Infections

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DOCK2 and a Recessive Immunodeficiency with Early-OnsetInvasive Infections

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