Search Results - "Felgentreff, Kerstin"

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay by Volpi, Stefano, Yamazaki, Yasuhiro, Brauer, Patrick M, van Rooijen, Ellen, Hayashida, Atsuko, Slavotinek, Anne, Sun Kuehn, Hye, Di Rocco, Maja, Rivolta, Carlo, Bortolomai, Ileana, Du, Likun, Felgentreff, Kerstin, Ott de Bruin, Lisa, Hayashida, Kazutaka, Freedman, George, Marcovecchio, Genni Enza, Capuder, Kelly, Rath, Prisni, Luche, Nicole, Hagedorn, Elliott J, Buoncompagni, Antonella, Royer-Bertrand, Beryl, Giliani, Silvia, Poliani, Pietro Luigi, Imberti, Luisa, Dobbs, Kerry, Poulain, Fabienne E, Martini, Alberto, Manis, John, Linhardt, Robert J, Bosticardo, Marita, Rosenzweig, Sergio Damian, Lee, Hane, Puck, Jennifer M, Zúñiga-Pflücker, Juan Carlos, Zon, Leonard, Park, Pyong Woo, Superti-Furga, Andrea, Notarangelo, Luigi D

“…We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense…”
Get full text

Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies by 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

“…DNA damage is a constant event in every cell caused by exogenous factors such as ultraviolet and ionizing radiation (UVR/IR) and intercalating drugs, or…”
Get full text

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency by Felgentreff, Kerstin, MD, Lee, Yu Nee, PhD, Frugoni, Francesco, PhD, Du, Likun, PhD, van der Burg, Mirjam, PhD, Giliani, Silvia, PhD, Tezcan, Ilhan, MD, Reisli, Ismail, MD, Mejstrikova, Ester, MD, de Villartay, Jean-Pierre, PhD, Sleckman, Barry P., MD, PhD, Manis, John, MD, PhD, Notarangelo, Luigi D., MD

“…Background The endonuclease ARTEMIS, which is encoded by the DCLRE1C gene, is a component of the nonhomologous end-joining pathway and participates in hairpin…”
Get full text

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

“…We report the molecular, cellular, and clinical features of 5 patients from 3 kindreds with biallelic mutations in the autosomal LIG1 gene encoding DNA ligase…”
Get full text

Differential DNA Damage Response of Peripheral Blood Lymphocyte Populations by Felgentreff, Kerstin, Schuetz, Catharina, Baumann, Ulrich, Klemann, Christian, Viemann, Dorothee, Ursu, Simona, Jacobsen, Eva-Maria, Debatin, Klaus-Michael, Schulz, Ansgar, Hoenig, Manfred, Schwarz, Klaus

“…DNA damage occurs constantly in every cell triggered by endogenous processes of replication and metabolism, and external influences such as ionizing radiation…”
Get full text

Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress by Rissone, Alberto, Weinacht, Katja Gabriele, la Marca, Giancarlo, Bishop, Kevin, Giocaliere, Elisa, Jagadeesh, Jayashree, Felgentreff, Kerstin, Dobbs, Kerry, Al-Herz, Waleed, Jones, Marypat, Chandrasekharappa, Settara, Kirby, Martha, Wincovitch, Stephen, Simon, Karen Lyn, Itan, Yuval, DeVine, Alex, Schlaeger, Thorsten, Schambach, Axel, Sood, Raman, Notarangelo, Luigi D, Candotti, Fabio

“…Adenylate kinases (AKs) are phosphotransferases that regulate the cellular adenine nucleotide composition and play a critical role in the energy homeostasis of…”
Get full text

A novel mutation in the POLE2 gene causing combined immunodeficiency by Frugoni, Francesco, PhD, Dobbs, Kerry, BS, Felgentreff, Kerstin, MD, Aldhekri, Hasan, MD, Al Saud, Bandar K., MBBS, Arnaout, Rand, MBBS, Ali, Afshan Ashraf, MD, Abhyankar, Avinash, MD, PhD, Alroqi, Fayhan, MD, Giliani, Silvia, PhD, Ojeda, Mayra Martinez, MD, Tsitsikov, Erdyni, PhD, Pai, Sung-Yun, MD, Casanova, Jean Laurent, MD, PhD, Notarangelo, Luigi D., MD, Manis, John P., MD

“…To the Editor: Early lymphocyte development requires the orchestrated interplay of pathways to maintain genomic integrity and accurate DNA repair during the…”
Get full text

Natural Killer Cells Generated From Human Induced Pluripotent Stem Cells Mature to CD56brightCD16+NKp80+/-In-Vitro and Express KIR2DL2/DL3 and KIR3DL1 by Euchner, Johanna, Sprissler, Jasmin, Cathomen, Toni, Fürst, Daniel, Schrezenmeier, Hubert, Debatin, Klaus-Michael, Schwarz, Klaus, Felgentreff, Kerstin

“…The differentiation of human induced pluripotent stem cells (hiPSCs) into T and natural killer (NK) lymphocytes opens novel possibilities for developmental…”
Get full text

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals by 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.

“…Purpose DNA Ligase 4 (LIG4) is a key factor in the non-homologous end-joining (NHEJ) DNA double-strand break repair pathway needed for V(D)J recombination and…”
Get full text

DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells by Björkman, Andrea, Du, Likun, Felgentreff, Kerstin, Rosner, Cornelia, Pankaj Kamdar, Radhika, Kokaraki, Georgia, Matsumoto, Yoshihisa, Davies, E Graham, van der Burg, Mirjam, Notarangelo, Luigi D, Hammarström, Lennart, Pan-Hammarström, Qiang

“…Nonhomologous end-joining (NHEJ) is one of the major DNA double-strand break repair pathways in mammalian cells and is required for both V(D)J recombination…”
Get full text

Allergic Airway Inflammation Inhibits Pulmonary Antibacterial Host Defense by Beisswenger, Christoph, Kandler, Kerstin, Hess, Christian, Garn, Holger, Felgentreff, Kerstin, Wegmann, Michael, Renz, Harald, Vogelmeier, Claus, Bals, Robert

“…The innate immune system of the lung is a multicomponent host defense system and in addition has an instructing role in regulating the quality and quantity of…”
Get full text

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

“…Nonhomologous end-joining (NHEJ) is a key pathway for efficient repair of DNA double-strand breaks (DSBs) and V(D)J recombination. NHEJ defects in humans cause…”
Get full text

Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis by Speckmann, Carsten, MD, Neumann, Carla, MD, Borte, Stephan, MD, la Marca, Giancarlo, PharmSc, Sass, Jörn Oliver, Dr.rer.nat, Wiech, Elisabeth, PhD, Fisch, Paul, MD, Schwarz, Klaus, MD, Buchholz, Bernd, MD, Schlesier, Michael, PhD, Felgentreff, Kerstin, MD, Grimbacher, Bodo, MD, Santisteban, Ines, PhD, Bali, Pawan, PhD, Hershfield, Michael S., MD, Ehl, Stephan, MD

“…[...]more favorable results have been reported in other patients.7 The data from P2 are encouraging, also regarding the lung disease observed in some…”
Get full text

The role of induced pluripotent stem cells in research and therapy of primary immunodeficiencies by Weinacht, Katja G, Brauer, Patrick M, Felgentreff, Kerstin, Devine, Alex, Gennery, Andrew R, Giliani, Silvia, Al-Herz, Waleed, Schambach, Axel, Zúñiga-Pflücker, Juan Carlos, Notarangelo, Luigi D

“…Highlights ► Induced pluripotent stem cells (iPSCs) may provide a renewable stem cell source for use in research. ► Patient-derived iPSCs are a valuable…”
Get full text

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections by 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

“…In this study, DOCK2 mutations were linked to an autosomal recessive form of congenital immunodeficiency and early-onset bacterial and viral infections…”
Get full text

Chemotherapy for a secondary malignancy nearly restores complete chimerism in an SCID-patient after HSCT by Maier, Felix I, Schulz, Ansgar, Furlan, Ingrid, Felgentreff, Kerstin, Jacobsen, Eva-Maria, Sirin, Mehtap, Schwarz, Klaus, Pannicke, Ulrich, Stursberg, Jana, Debatin, Klaus-Michael, Hönig, Manfred

“…For patients with inborn errors of immunity (IEI) and other inborn diseases, mixed donor chimerism is a well-accepted outcome of hematopoietic stem cell…”
Get full 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 by 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

“…Purpose Genetic hypomorphic defects in X chromosomal IKBKG coding for the NF-κB essential modulator (NEMO) lead to ectodermal dysplasia and immunodeficiency in…”
Get full text

PLA2R-positive (primary) membranous nephropathy in a child with IPEX syndrome by Chuva, Teresa, Pfister, Frederick, Beringer, Ortraud, Felgentreff, Kerstin, Büttner-Herold, Maike, Amann, Kerstin

“…Background Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare primary immunodeficiency syndrome characterized by the…”
Get full text

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency by Felgentreff, Kerstin, Perez-Becker, Ruy, Speckmann, Carsten, Schwarz, Klaus, Kalwak, Krzysztof, Markelj, Gasper, Avcin, Tadej, Qasim, Waseem, Davies, E.G, Niehues, Tim, Ehl, Stephan

“…Abstract Hypomorphic mutations in genes associated with severe combined immunodeficiency (SCID) or Omenn syndrome can also cause milder immunodeficiencies. We…”
Get full text

PLA2R-positive by Chuva, Teresa, Pfister, Frederick, Büttner-Herold, Maike, Amann, Kerstin, Beringer, Ortraud, Felgentreff, Kerstin

“…Background Immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare primary immunodeficiency syndrome characterized by the…”
Get full text