1. A novel immunodeficiency syndrome associated with partial trisomy 19p13. Issue 4 (15th January 2014) Authors: Seidel, Markus G; Duerr, Celia; Woutsas, Stavroula; Schwerin-Nagel, Anette; Sadeghi, Kambis; Neesen, Jürgen; Uhrig, Sabine; Santos-Valente, Elisangela; Pickl, Winfried F; Schwinger, Wolfgang; Urban, Christian; Boztug, Kaan; Förster-Waldl, Elisabeth Journal: Journal of medical genetics Issue: Volume 51:Issue 4(2014) Page Start: 254 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adenosine Deaminase Type II Deficiency: Severe Chronic Neutropenia, Lymphoid Infiltration in Bone Marrow, and Inflammatory Features. (3rd April 2022) Authors: Süleyman, Merve; Tan, Çağman; Uner, Aysegul; İnkaya, Çağkan; Aytaç, Selin; Büyükaşık, Yahya; Boztug, Kaan; Tezcan, İlhan; Cagdas, Deniz Journal: Immunological investigations Issue: Volume 51:Number 3(2022) Page Start: 558 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. ASCIA‐P69: A NOVEL AICDA MUTATION IN A CASE OF AUTOSOMAL RECESSIVE HYPER‐IGM SYNDROME, GROWTH HORMONE DEFICIENCY AND AUTOIMMUNITY. (9th September 2016) Authors: Kashef, Sara; Fazel, Ali; Aleyasin, Soheila; Harsini, Sara; Karamizadeh, Zohreh; Zoghi, Samaneh; Flores, Stefanie Klaver; Boztug, Kaan; Rezaei, Nima Journal: Internal medicine journal Issue: Volume 46(2016)Supplement 4 Page Start: 26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Atypical Manifestation of LRBA Deficiency with Predominant IBD-like Phenotype. Issue 1 (January 2015) Authors: Serwas, Nina Kathrin; Kansu, Aydan; Santos-Valente, Elisangela; Kuloğlu, Zarife; Demir, Arzu; Yaman, Aytaç; Yaneth Gamez Diaz, Laura; Artan, Reha; Sayar, Ersin; Ensari, Arzu; Grimbacher, Bodo; Boztug, Kaan Journal: Inflammatory bowel diseases Issue: Volume 21:Issue 1(2015:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Band 3 nullVIENNA, a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis. Issue 3 (8th October 2016) Authors: Kager, Leo; Bruce, Lesley J.; Zeitlhofer, Petra; Flatt, Joanna F.; Maia, Tabita M.; Ribeiro, M. Leticia; Fahrner, Bernhard; Fritsch, Gerhard; Boztug, Kaan; Haas, Oskar A. Journal: Pediatric blood & cancer Issue: Volume 64:Issue 3(2017) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. BCGitis as the primary manifestation of chronic granulomatous disease. (2021) Authors: Khalili, Nastaran; Mohammadzadeh, Iraj; Khalili, Neda; Heredia, Raúl Jimenez; Zoghi, Samaneh; Boztug, Kaan; Rezaei, Nima Journal: IDCases Issue: Volume 23(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. B‐cell signaling in persistent polyclonal B lymphocytosis (PPBL). Issue 9 (31st May 2016) Authors: Voelxen, Nadine; Wehr, Claudia; Gutenberger, Sylvia; Keller, Baerbel; Erlacher, Miriam; Dominguez‐Conde, Cecilia; Bertele, Daniela; Emmerich, Florian; Pantic, Milena; Jennings, Stefanie; Rakhmanov, Mirzokhid; Foerster, Christian; Martens, Uwe M; Platzbecker, Uwe; Peter, Hans‐Hartmut; Fisch, Paul;... Journal: Immunology and cell biology Issue: Volume 94:Issue 9(2016) Page Start: 830 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical Features of Interleukin 10 Receptor Gene Mutations in Children With Very Early–Onset Inflammatory Bowel Disease. Issue 3 (March 2015) Authors: Beser, Omer F.; Conde, Cecilia Dominguez; Serwas, Nina K.; Cokugras, Fügen Cullu; Kutlu, Tufan; Boztug, Kaan; Erkan, Tulay Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 60:Issue 3(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases. (6th September 2016) Authors: Karaca, Neslihan Edeer; Aksu, Guzide; Ulusoy, Ezgi; Aksoylar, Serap; Gozmen, Salih; Genel, Ferah; Akarcan, Sanem; Gulez, Nesrin; Hirschmugl, Tatjana; Kansoy, Savas; Boztug, Kaan; Kutukculer, Necil Other Names: Anaya Juan-Manuel Academic Editor. Journal: Case reports in immunology Issue: Volume 2016(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Early‐onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms. Issue 1 (18th December 2018) Authors: Pazmandi, Julia; Kalinichenko, Artem; Ardy, Rico Chandra; Boztug, Kaan Journal: Immunological reviews Issue: Volume 287:Issue 1(2019) Page Start: 162 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗