Browsing by Author "Barış, Safa"
Now showing items 1-6 of 6
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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 ... -
Genomic investigation into early onset protein-losing enteropathies: Therapeutic implications and insights into clusters of shared pathomechanisms
Sefer, Asena Pınar; Karakoç Aydıner, Elif; Urgancı, Nafiye; Kıykım, Ertuğrul; Baysoy, Gökhan; Fisher, Megan; Ertem, Deniz; Bayrak, Aykut; Varol, Fatma İlknur; İşlek, Ali; Çullu Çokuğraş, Fügen; Beşer, Ömer Faruk; Baştürk, Ahmet; Güller, Dilek; Çavuşoğlu, Mustafa; Zhang, Yu; Hubrack, Satanay; Lyons, Jonathan; Demirbaş Ar, Fatma; Kutlu, Tufan; Barış, Safa; Lo, Bernice; Özen, Ahmet (Wiley, 2021)... -
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, ... -
Mutational landscape of severe combined immunodeficiency patients from Turkey
Fırtına, Sinem; Ng, Yuk Yin; Ng, Özden Hatırnaz; Kıykım, Ayça; Aydıner, Elif; Nepesov, Serdar; Camcıoğlu, Yıldız; Sayar, Esra H.; Reisli, İsmail; Torun, Selda H.; Çoğurlu, Tuba; Uygun, Dilara; Eser Şimşek, Işıl; Kaya, Ayşenur; Çipe, Funda; Çağdaş, Deniz; Yücel, Esra; Çekiç, Şükrü; Uygun, Vedat; Barış, Safa; Özen, Ahmet; Özbek, Uğur; Sayitoğlu, Müge (Wiley, 2020)Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation ... -
Primary antibody deficiencies in Turkey: Molecular and clinical aspects
Fırtına, Sinem; Ng, Yuk Yin; Ng, Özden Hatırnaz; Kıykım, Ayça; Yücel Özek, Esra; Kara, Manolya; Aydıner, Elif; Nepesov, Serdar; Camcıoğlu, Yıldız; Sayar, Esra Hazar; Güngören, Ezgi Yalçın; Reisli, İsmail; Hançerli Törün, Selda; Haskoloğlu, Şule; Çöğürlü, Tuba; Kaya, Ayşenur; Çekiç, Şükrü; Barış, Safa; Özbek, Uğur; Özen, Ahmet; Sayitoğlu, Müge (Humana Press Inc, 2022)Primary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes ... -
Primary antibody deficiencies in Turkey: molecular and clinical aspects (Oct, 10.1007/s12026-021-09242-z, 2021)
Fırtına, Sinem; Ng, Yuk Yin; Ng, Özden Hatırnaz; Kıykım, Ayça; Yücel Özek, Esra; Kara, Manolya; Aydıner, Elif; Nepesov, Serdar; Camcıoğlu, Yıldız; Sayar, Esra Hazar; Güngören, Ezgi Yalçın; Reisli, İsmail; Hançerli Törün, Selda; Haskoloğlu, Şule; Çöğürlü, Tuba; Kaya, Ayşenur; Çekiç, Şükrü; Barış, Safa; Özbek, Uğur; Özen, Ahmet; Sayitoğlu, Müge (Humana Press Inc, 2022)The original published version of this article contained a mistake in one of the afliations. The correct afliation of author Manolya Kara (7) should read.
