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Case Reports in Immunology|December 21, 2017
Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined ImmunodeficienciesSanem Eren Akarcan, Ezgi Ulusoy Severcan, Neslihan Edeer Karaca, et al.
Case Reports in Immunology|February 8, 2017
Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease GenotypesSanem Eren Akarcan, Neslihan Karaca, Guzide Aksu, et al.
JMM Case Reports|November 28, 2018
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndromeSanem Eren Akarcan, Neslihan Edeer Karaca, Guzide Aksu, et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology|February 16, 2020
The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter studySukru Cekic, Ayse Metin, Caner Aytekin, et al.
Pediatric Cardiology|August 2, 2022
Cardiac Assessment in Children with MIS-C: Late Magnetic Resonance Imaging FeaturesSema Yildirim Arslan, Zumrut Sahbudak Bal, Selen Bayraktaroglu, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 25, 2011
Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humansGreta Meyers, Yen-Shing Ng, Jason M Bannock, et al.
Immunologic Research|April 21, 2024
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variantsAyca Aykut, Asude Durmaz, Neslihan Karaca, et al.
Clinical Immunology (Orlando, Fla.)|February 14, 2004
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiencyPierre Quartier, Jacinta Bustamante, Ozden Sanal, et al.
Orphanet Journal of Rare Diseases|October 20, 2017
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registryRiccardo Papa, Matteo Doglio, Helen J Lachmann, et al.
Blood|August 22, 2013
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylationMarcela Moncada-Vélez, Rubén Martinez-Barricarte, Dusan Bogunovic, et al.
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