Yazar "Kara, Altan" için listeleme
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Clinical and immunological prognostic factors with novel variants in a large cohort of diacylglycerol acyltransferase 1 deficiency
Yorgun Altunbaş, Melek; Kogler, Hubert; Abolhassani, Hassan; Akkuş, Erkan; Baştürk, Ahmet; Akkelle, Emre; Sayar, Ersin; Polat, Esra; Kara, Altan; Can, Salim; Frohne, Alexandra; Segarra-Roca, Anna; Jimenez-Heredia, Raul; Babayeva, Royala; Sefer, Asena Pınar; Kıykım, Ayça; Bilgiç Eltan, Sevgi; Karakoç-Aydıner, Elif; Özen, Ahmet; Beşer, Ömer Faruk; Boztuğ, Kaan; Rezaei, Nima; Barış, Safa (American Academy of Allergy, Asthma and Immunology, 2025)Background: Biallelic variants in diacylglycerol acyltransferase 1 (DGAT1) genegene have been implicated congenital diarrhea and protein-losing enteropathy. Insights into the immunopathologic features of this ultrarare ... -
Corrigendum to “Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients” [Clinical Immunology 255 (2023) 109757]
Yakıcı, Nalan; Kreins, Alexandra Y.; Çatak, Mehmet Cihangir; Babayeva, Royala; Erman, Baran; Kenney, Heather; Güngör, Hatice Eke; Cea, Pablo A; Kawai, Tomoki; Bosticardo, Marita; Delmonte, Ottavia Maria; Adams, Stuart; Fan, Yu-Ton; Pala, Francesca; Türkyılmaz, Ayberk; Howley, Evey; Worth, Austen; Kot, Hakan; Sefer, Asena Pınar; Kara, Altan; Bulutoğlu, Alper; Bilgiç-Eltan, Sevgi; Altunbaş, Melek Yorgun; Bayram Çatak, Feyza; Karakuş, Ibrahim Serhat; Karatay, Emrah; Tekeoğlu, Sidem Didar; Eser, Metin; Albayrak, Davut; Çitli, Şenol; Kıykım, Ayça; Karakoç-Aydıner, Elif; Özen, Ahmet; Ghosh, Sujal; Gohlke, Holger; Orhan, Fazıl; Notarangelo, Luigi D.; Davies, E. Graham; Barış, Safa (Elsevier, 2023)..... -
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
Yakıcı, Nalan; Kreins, Alexandra Y.; Çatak, Mehmet Cihangir; Babayeva, Royala; Erman, Baran; Kenney, Heather; Güngör, Hatice Eke; Cea, Pablo A.; Kawai, Tomoki; Bosticardo, Marita; Delmonte, Ottavia Maria; Adams, Stuart; Fan, Yu-Ton; Pala, Francesca; Türkyılmaz, Ayberk; Howley, Evey; Worth, Austen; Kot, Hakan; Sefer, Asena Pınar; Kara, Altan; Bulutoğlu, Alper; Bilgiç-Eltan, Sevgi; Altunbaş, Melek Yorgun; Bayram Çatak, Feyza; Karakuş, Ibrahim Serhat; Karatay, Emrah; Tekeoğlu, Sidem Didar; Eser, Metin; Albayrak, Davut; Çitli, Şenol; Kıykım, Ayça; Karakoç-Aydıner, Elif; Özen, Ahmet; Ghosh, Sujal; Gohlke, Holger; Orhan, Fazıl; Notarangelo, Luigi D.; Davies, E. Graham; Barış, Safa (Elsevier, 2023)Paired box 1 (PAX1) deficiency has been reported in a small number of patients diagnosed with otofaciocervical syndrome type 2 (OFCS2). We described six new patients who demonstrated variable clinical penetrance. Reduced ...
