Yazar "Kendir Demirkol, Yasemin" için listeleme
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Adrenocortical hormone profiles do not predict the molecular etiology in non-CAH primary adrenal insufficiency
Seven Menevşe, Tuba; Kendir Demirkol, Yasemin; Gürpınar Tosun, Büşra; Bayramoğlu, Elvan; Yıldız, Melek; Acar, Sezer; Erişen Karaca, Seda; Orbak, Zerrin; Önder, Asan; Söbü, Elif; Anık, Ahmet; Atay, Zeynep; Buğrul, Fuat; Demir, Korcan; Doğan, Durmuş; Emeksiz, Hamdi Cihan; Kırmızıbekmez, Heves; Özcan Murat, Nurhan; Yaman, Akan; Turan, Serap; Bereket, Abdullah; Güran, Tülay (Karger, 2021)Background: Primary adrenal insufficiency other than congenital adrenal hyperplasia (non-CAH PAI) is very uncommon in children but associated with a variety of molecular defects. Biosynthesis of adrenocortical hormones is ... -
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency
Kolukısa, Burcu; Başer, Dilek; Akçam, Bengü; Danielson, Jeffrey; Bilgiç Eltan, Sevgi; Haliloğlu, Yeşim; Sefer, Asena Pınar; Babayeva, Royale; Akgün, Gamze; Charbonnier, Louis-Marie; Schmitz-Abe, Klaus; Kendir Demirkol, Yasemin; Zhang, Yu; Gonzaga-Jauregui, Claudia; Heredia, Raul Jimenez; Kasap, Nurhan; Kıykım, Ayça; Özek Yücel, Esra; Gök, Veysel; Ünal, Ekrem; Paç Kısaarslan, Ayşenur; Nepesov, Serdar; Baysoy, Gökhan; Önal, Zerrin; Yeşil, Gözde; Celkan, Tülin Tiraje; Çokuğraş, Haluk; Camcıoğlu, Yıldız; Eken, Ahmet; Boztug, Kaan; Lo, Bernice; Karakoç Aydıner, Elif; Su, Helen C.; Özen, Ahmet; Chatila, Talal A.; Barış, Safa (Wiley, 2022)Background Biallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological ... -
Genetic and clinical profiling of mendelian susceptibility to mycobacterial disease patients; singlecenter experience
Nepesov, Serdar; Fırtına, Sinem; Aygün, Fatma Deniz; Işıkgil, Betül; Çamcıoğlu, Yıldız; Kıykım, Ayça; Yücel, Esra; Kendir Demirkol, Yasemin; Ayaz, Akif (Istanbul University, 2022)Objective: Mendelian susceptibility to mycobacterial disease (MSMD) is a subgroup of primary immunodeficiencies which develops with the Bacille Calmette–Guérin (BCG) vaccine or non-tuberculous mycobacterial infections. The ... -
Immune reconstitution inflammatory syndrome after hematopoietic stem cell transplantation in a FOXN1-deficient patient
Çorbalı, Osman; Gemici Karaaslan, Hatice Betül; Aydemir, Sezin; Önal, Pınar; Kendir Demirkol, Yasemin; Nepesov, Serdar; Kıykım, Ayça; Çokuğraş, Haluk (Lippincott Williams and Wilkins, 2023)The FOXN1 gene mutation is a unique disorder that causes the nude severe combined immunodeficiency phenotype. In patients with severe combined immunodeficiency, hematopoietic stem cell transplantation (HSCT) is life-saving ... -
Inflammatory bowel disease and guillain barre syndrome in FCHO1 deficiency
Aydemir, Sezin; İşlek, Ali; Nepesov, Serdar; Yaman, Yöntem; Baysoy, Gökhan; Beşer, Ömer Faruk; Çullu Çokuğraş, Fügen; Barış, Safa; Karakoç Aydıner, Elif; Çokuğraş, Haluk; Hubrack, Satanay Z.; Kendir Demirkol, Yasemin; Lo, Bernice; Kıykım, Ayça; Özen, Ahmet (Springer, 2021)To the Editor: FCH And Mu Domain Containing Endocytic Adaptor 1 (FCHO1) gene encodes a protein that plays a critical role in clathrin-mediated endocytosis, a biological process that maintains cellular functions in signaling, ... -
Steroid hormone profiles and molecular diagnostic tools in pediatric patients with non-CAH primary adrenal insufficiency
Seven Menevşe, Tuba; Kendir Demirkol, Yasemin; Gürpınar Tosun, Büşra; Bayramoğlu, Elvan; Yıldız, Melek; Acar, Sezer; Erişen Karaca, Seda; Orbak, Zerrin; Önder, Asan; Söbü, Elif; Anık, Ahmet; Atay, Zeynep; Buğrul, Fuat; Buluş, Ayşe Derya; Demir, Korcan; Doğan, Durmuş; Emeksiz, Hamdi Cihan; Kırmızıbekmez, Heves; Özcan Murat, Nurhan; Yaman, Akan; Turan, Serap; Bereket, Abdullah; Güran, Tülay (National Library of Medicine's (NLM) Medline, 2022)CONTEXT: There is a significant challenge of attributing specific diagnoses to patients with primary adrenal insufficiency of unknown etiology other than congenital adrenal hyperplasia (non-CAH PAI). Specific diagnoses per ...