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Clinical Case Reports|May 3, 2021
Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and differenceNecil Kutukculer, Ezgi Topyildiz, Afig Berdeli, et al.Molecular Syndromology|December 7, 2023
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish ChildHatice Ceren Eser, Durdugul Ayyildiz Emecen, Ezgi Topyildiz, et al.Clinical and Experimental Medicine|May 22, 2009
Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCIDNeslihan Edeer Karaca, Guzide Aksu, Ferah Genel, et al.Journal of Pediatric Hematology/Oncology|April 12, 2021
A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic AnemiaEzgi Topyildiz, Neslihan Edeer Karaca, Ilke Bas, et al.International Journal of Immunopathology and Pharmacology|July 7, 2018
Familial inheritance and screening of first-degree relatives in common variable immunodeficiency and immunoglobulin A deficiency patientsNeslihan Edeer Karaca, Ezgi Ulusoy Severcan, Burcu Guven Bilgin, et al.Scandinavian Journal of Immunology|March 18, 2022
Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variantsAyca Aykut, Asude Durmaz, Neslihan Karaca, et al.Journal of Child Neurology|July 21, 2007
Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infectionsFerda Ozkinay, Sacide Pehlivan, Huseyin Onay, et al.Case Reports in Immunology|October 5, 2016
Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial CasesNeslihan Edeer Karaca, Guzide Aksu, Ezgi Ulusoy, et al.The Journal of Allergy and Clinical Immunology|June 5, 2007
BCG-osis and tuberculosis in a child with chronic granulomatous diseaseJacinta Bustamante, Guzide Aksu, Guillaume Vogt, et al.Journal of Clinical Immunology|May 6, 2020
Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of TranslationKunihiko Moriya, Saori Kadowaki, Tomohiro Nakano, et al.Pageof 8