1. Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature. Issue 6 (27th May 2016) Authors: Olbrich, Peter; Lorenz, Myriam; Cura Daball, Paola; Lucena, José Manuel; Rensing‐Ehl, Anne; Sanchez, Berta; Führer, Marita; Camacho‐Lovillo, Marisol; Melon, Marta; Schwarz, Klaus; Neth, Olaf; Speckmann, Carsten Journal: Pediatric allergy and immunology Issue: Volume 27:Issue 6(2016) Page Start: 640 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype‐phenotype correlations. (29th July 2016) Authors: Bianchi, Paola; Schwarz, Klaus; Högel, Josef; Fermo, Elisa; Vercellati, Cristina; Grosse, Regine; van Wijk, Richard; van Zwieten, Rob; Barcellini, Wilma; Zanella, Alberto; Heimpel, Hermann Journal: British journal of haematology Issue: Volume 175:Number 4(2016) Page Start: 696 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome. Issue 10 (14th June 2018) Authors: Cura Daball, Paola; Ventura Ferreira, Monica Sofia; Ammann, Sandra; Klemann, Christian; Lorenz, Myriam R; Warthorst, Ursula; Leahy, Timothy Ronan; Conlon, Niall; Roche, Justin; Soler‐Palacín, Pere; Garcia‐Prat, Marina; Fuchs, Ilka; Fuchs, Sebastian; Beier, Fabian; Brümmendorf, Tim H; Speckmann, C... Journal: Immunology and cell biology Issue: Volume 96:Issue 10(2018) Page Start: 1060 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels. (September 2018) Authors: Klemann, Christian; Kirschner, Janbernd; Ammann, Sandra; Urbach, Horst; Moske-Eick, Olaf; Zieger, Barbara; Lorenz, Myriam Ricarda; Schwarz, Klaus; Doostkam, Soroush; Ehl, Stephan; Korinthenberg, Rudolf Journal: European journal of paediatric neurology Issue: Volume 22:Number 5(2018:Sep.) Page Start: 870 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Compound heterozygous variants in OTULIN are associated with fulminant atypical late‐onset ORAS. Issue 3 (16th February 2022) Authors: Zinngrebe, Julia; Moepps, Barbara; Monecke, Thomas; Gierschik, Peter; Schlichtig, Ferdinand; Barth, Thomas F E; Strauß, Gudrun; Boldrin, Elena; Posovszky, Carsten; Schulz, Ansgar; Beringer, Ortraud; Rieser, Eva; Jacobsen, Eva‐Maria; Lorenz, Myriam Ricarda; Schwarz, Klaus; Pannicke, Ulrich; Walcza... Journal: EMBO molecular medicine Issue: Volume 14:Issue 3(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Key findings to expedite the diagnosis of hyper‐IgE syndromes in infants and young children. Issue 2 (26th January 2016) Authors: Hagl, Beate; Heinz, Valerie; Schlesinger, Anne; Spielberger, Benedikt D.; Sawalle‐Belohradsky, Julie; Senn‐Rauh, Monika; Magg, Thomas; Boos, Annette C.; Hönig, Manfred; Schwarz, Klaus; Dückers, Gregor; von Bernuth, Horst; Pache, Christoph; Karitnig‐Weiss, Cäcilia; Belohradsky, Bernd H.; Frank, Jo... Journal: Pediatric allergy and immunology Issue: Volume 27:Issue 2(2016) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. MCM3AP and POMP Mutations Cause a DNA‐Repair and DNA‐Damage‐Signaling Defect in an Immunodeficient Child. Issue 3 (30th December 2015) Authors: Gatz, Susanne A.; Salles, Daniela; Jacobsen, Eva‐Maria; Dörk, Thilo; Rausch, Tobias; Aydin, Sevtap; Surowy, Harald; Volcic, Meta; Vogel, Walther; Debatin, Klaus‐Michael; Stütz, Adrian M.; Schwarz, Klaus; Pannicke, Ulrich; Hess, Timo; Korbel, Jan O.; Schulz, Ansgar S.; Schumacher, Johannes; Wiesmü... Journal: Human mutation Issue: Volume 37:Issue 3(2016) Page Start: 257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre‐excitation syndrome. Issue 7 (20th April 2020) Authors: Niehues, Tim; Özgür, Tuba Turul; Bickes, Marie; Waldmann, Rebekka; Schöning, Jennifer; Bräsen, Jan; Hagel, Christian; Ballmaier, Matthias; Klusmann, Jan‐Henning; Niedermayer, Alexandra; Pannicke, Ulrich; Enders, Anselm; Dückers, Gregor; Siepermann, Kathrin; Hempel, Julyia; Schwarz, Klaus; Viemann... Journal: European journal of immunology Issue: Volume 50:Issue 7(2020) Page Start: 1078 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE. (9th May 2022) Authors: Charras, Amandine; Haldenby, Sam; Smith, Eve M D; Egbivwie, Naomi; Olohan, Lisa; Kenny, John G; Schwarz, Klaus; Roberts, Carla; Al-Abadi, Eslam; Armon, Kate; Bailey, Kathryn; Ciurtin, Coziana; Gardner-Medwin, Janet; Haslam, Kirsty; Hawley, Daniel P; Leahy, Alice; Leone, Valentina; McErlane, Flora... Journal: Rheumatology Issue: Volume 62:Number SI2(2023) Page Start: SI210 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Patients with T+/low NK+ IL‐2 receptor γ chain deficiency have differentially‐impaired cytokine signaling resulting in severe combined immunodeficiency. Issue 10 (28th August 2014) Authors: Fuchs, Sebastian; Rensing‐Ehl, Anne; Erlacher, Miriam; Vraetz, Thomas; Hartjes, Lara; Janda, Ales; Rizzi, Marta; Lorenz, Myriam R.; Gilmour, Kimberly; de Saint‐Basile, Geneviève; Roifman, Chaim M.; Cheuk, Steven; Gennery, Andrew; Thrasher, Adrian J.; Fuchs, Ilka; Schwarz, Klaus; Speckmann, Carste... Journal: European journal of immunology Issue: Volume 44:Issue 10(2014:Oct.) Page Start: 3129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗