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Journal of Inherited Metabolic Disease|July 9, 2017
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patientsEwa Pronicka, Mariola Ropacka-Lesiak, Joanna Trubicka, et al.Lancet (London, England)|January 26, 2024
Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 studyAhmet Ozen, Voranush Chongsrisawat, Asena Pinar Sefer, et al.Allergy|July 27, 2021
Adverse COVID-19 outcomes in immune deficiencies: Inequality exists between subclassesElif Karakoc Aydiner, Sevgi Bilgic Eltan, Royale Babayeva, et al.Nature Immunology|April 9, 2021
Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbationsDavid Zemmour, Louis-Marie Charbonnier, Juliette Leon, et al.The Journal of Allergy and Clinical Immunology. in Practice|January 29, 2026
SPINK5 variants drive clinical variability in Netherton syndrome through Th2/Th17 skewing and influence therapeutic outcomesMelek Yorgun Altunbas, Erhan Topal, Feyza Bayram-Catak, et al.Immunologic Research|October 7, 2021
Primary antibody deficiencies in Turkey: molecular and clinical aspectsSinem Firtina, Yuk Yin Ng, Ozden H Ng, et al.Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|June 11, 2024
Artemis deficiency: A large cohort including a novel variant with increased radiosensitivityZeynep Meric, Betul Gemici Karaaslan, Ezgi Yalcin Gungoren, et al.The Journal of Allergy and Clinical Immunology|February 9, 2023
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6Safa Baris, Mehdi Benamar, Qian Chen, et al.International Journal of Immunogenetics|May 24, 2020
Mutational landscape of severe combined immunodeficiency patients from TurkeySinem Firtina, Yuk Yin Ng, Ozden Hatirnaz Ng, et al.Journal of Clinical Immunology|December 22, 2023
Evaluation of Clinical and Immunological Alterations Associated with ICF SyndromeSevgi Bilgic Eltan, Ercan Nain, Mehmet Cihangir Catak, et al.Pageof 14